ClinVar Miner

Variants from Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center: Collection method of the submission from Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center:
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
522 104 1 78 14 1 25 106

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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 43 5 0 0 1
likely pathogenic 35 0 12 0 0 0
uncertain significance 3 8 0 13 1 0

Submitter to submitter summary #

Total submitters: 88
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 46 0 11 7 0 3 21
OMIM 0 37 0 13 0 0 2 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 28 0 9 0 0 1 10
Genome-Nilou Lab 0 11 0 9 0 0 0 9
Revvity Omics, Revvity 0 30 0 7 1 0 0 8
3billion 0 24 0 5 1 0 1 7
Mendelics 0 24 0 7 0 0 0 7
Baylor Genetics 0 36 0 5 0 0 1 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 3 1 0 2 6
Counsyl 0 7 0 3 0 0 3 6
Institute of Human Genetics, University of Leipzig Medical Center 0 19 0 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 35 0 5 0 0 1 6
Fulgent Genetics, Fulgent Genetics 0 30 0 4 0 0 1 5
Illumina Laboratory Services, Illumina 0 22 0 2 3 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 19 1 3 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 7 0 3 0 0 1 4
Natera, Inc. 0 17 0 4 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 9 0 2 0 0 1 3
Department of Human Genetics, Hannover Medical School 0 3 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 8 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 15 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 12 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 13 0 3 0 0 0 3
MGZ Medical Genetics Center 0 13 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 2 0 0 1 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 6 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 16 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 11 0 1 0 0 1 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 2 0 0 0 2
Myriad Genetics, Inc. 0 14 0 1 0 0 1 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 2 0 0 0 2
Variantyx, Inc. 0 17 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 11 0 1 0 0 0 1
Ambry Genetics 0 3 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 0 0 0 1 1
ClinPGx 0 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 7 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 11 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 0 1 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 0 0 0 1 0 0 0 1
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 0 1 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 0 0 0 1 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 2 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 8 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 2 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 5 0 1 0 0 0 1
New York Genome Center 0 9 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 1 0 0 0 1
Pediatrics, Henan Provincial People's Hospital 0 0 0 1 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 0 0 0 1 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 0 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 4 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 7 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00186
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00048
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_006390.4(IPO8):c.339G>A (p.Met113Ile) rs149978470 0.00044
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00026
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00009
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter) rs745337581 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) rs1388273402 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met) rs763500409 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00001
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs) rs2072462600
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000166.6(GJB1):c.622del (p.Glu208fs) rs2147946914
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs) rs2548671260
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001134407.3(GRIN2A):c.4205G>C (p.Arg1402Pro) rs74935155
NM_001170629.2(CHD8):c.6447_6450del (p.Arg2150fs)
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter) rs2505617458
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001320.7(CSNK2B):c.291+1G>A
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003590.5(CUL3):c.382C>T (p.Arg128Cys) rs2106223782
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006421.5(ARFGEF1):c.4655dup (p.Pro1553fs) rs774148781
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006924.5(SRSF1):c.11del (p.Gly4fs)
NM_006924.5(SRSF1):c.478G>A (p.Val160Met) rs2509285683
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter) rs750685646
NM_014140.4(SMARCAL1):c.886del (p.Thr296fs) rs2469620696
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter) rs754586094
NM_018489.3(ASH1L):c.466G>A (p.Glu156Lys) rs866370455
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly) rs730881881
NM_030632.3(ASXL3):c.1579C>T (p.Gln527Ter) rs2510916984
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) rs1595375255
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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