ClinVar Miner

Variants from Lifecell International Pvt. Ltd with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Lifecell International Pvt. Ltd: Collection method of the submission from Lifecell International Pvt. Ltd:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
135 102 0 107 2 0 22 118

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Lifecell International Pvt. Ltd pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 56 8 0 0
likely pathogenic 50 0 12 0 1
uncertain significance 0 0 0 0 1
benign 1 1 1 1 0

Submitter to submitter summary #

Total submitters: 99
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 56 0 25 0 0 3 28
Baylor Genetics 0 42 0 14 0 0 2 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 40 0 15 0 0 0 15
Counsyl 0 14 0 10 0 0 2 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 20 0 8 0 0 4 12
OMIM 0 47 0 12 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 30 0 10 0 0 1 11
3billion 0 40 0 7 1 0 1 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 14 0 7 0 0 2 9
Revvity Omics, Revvity 0 34 0 8 0 0 1 9
Natera, Inc. 0 25 0 7 0 0 1 8
Neuberg Centre For Genomic Medicine, NCGM 0 49 0 6 0 0 2 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 34 0 8 0 0 0 8
Variantyx, Inc. 0 10 0 7 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 12 0 4 0 0 2 6
Genome-Nilou Lab 0 9 0 6 0 0 0 6
Mendelics 0 16 0 2 2 0 2 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 10 0 5 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 12 0 5 0 0 0 5
Myriad Genetics, Inc. 0 14 0 4 0 0 1 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 4 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 0 12 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 4 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 7 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 7 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 7 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 13 0 2 0 0 1 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 13 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 3 0 0 0 3
Suma Genomics 0 9 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 2 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 1 2
Dunham Lab, University of Washington 0 8 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 8 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 1 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 1 0 0 1 2
OLLIN Analises Genomicas, OLLIN 0 2 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 1 0 2 0 0 0 2
RettBASE 0 2 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 6 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 1 0 0 0 1
Biochemistry Department, Nishtar Medical University 0 0 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 10 0 1 0 0 0 1
CFTR2 0 1 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 0 0 1 0 0 0 1
Center for Bioinformatics, Peking University 0 7 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 2 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 3 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 5 0 1 0 0 0 1
Dasa 0 5 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 3 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 3 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 15 0 1 0 0 0 1
GENinCode PLC 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 6 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 7 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 1 0 0 0 1
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz 0 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO) 0 5 0 1 0 0 0 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03769
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00218
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00026
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00013
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00011
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_001195248.2(APTX):c.596del (p.Arg199fs) rs770007531 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00001
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797 0.00001
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) rs199831317 0.00001
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00001
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) rs754259099
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter) rs2488132886
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
NM_004429.5(EFNB1):c.499+1G>A rs1556107481
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_014268.4(MAPRE2):c.517C>T (p.Arg173Ter) rs2523915648
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) rs1452228678
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter) rs140277551
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663

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