ClinVar Miner

Variants from Dr.Nikuei Genetic Center with conflicting interpretations

Location: Iran  Primary collection method: clinical testing
Minimum review status of the submission from Dr.Nikuei Genetic Center: Collection method of the submission from Dr.Nikuei Genetic 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
135 12 0 26 14 0 5 42

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
Dr.Nikuei Genetic Center pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 21 4 0 0
likely benign 0 0 4 0 1
benign 1 0 10 4 0

Submitter to submitter summary #

Total submitters: 35
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
Fulgent Genetics, Fulgent Genetics 0 6 0 2 3 0 0 5
Labcorp Genetics (formerly Invitae), Labcorp 0 11 0 2 3 0 0 5
Illumina Laboratory Services, Illumina 0 2 0 1 3 0 0 4
Revvity Omics, Revvity 0 4 0 1 3 0 0 4
Genome-Nilou Lab 0 3 0 2 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 0 0 0 2
Baylor Genetics 0 7 0 2 0 0 0 2
Counsyl 0 1 0 2 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 2 0 0 0 2
Mendelics 0 2 0 1 1 0 0 2
Natera, Inc. 0 3 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 5 0 2 0 0 0 2
3billion 0 4 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Department Of Biochemistry, Hamamatsu University School Of Medicine 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 1 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
New York Genome Center 0 0 0 0 1 0 0 1
OMIM 0 7 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 1 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737 0.00133
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_024666.5(AAGAB):c.415G>A (p.Val139Ile) rs138601241 0.00038
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met) rs750659716 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_015459.5(ATL3):c.14A>G (p.Gln5Arg) rs749897277 0.00002
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter) rs760155608 0.00001
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala) rs746215131 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp) rs767807136 0.00001
NM_033419.5(PGAP3):c.850C>G (p.His284Asp) rs759541820 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_198525.3(KIF7):c.151C>T (p.Arg51Cys) rs746429585 0.00001
NM_000037.4(ANK1):c.1624G>A (p.Val542Met)
NM_000037.4(ANK1):c.3477G>A (p.Pro1159=)
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000191.3(HMGCL):c.349_361del rs2521441733
NM_000376.3(VDR):c.821G>A (p.Arg274His) rs121909796
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu) rs377174668
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs) rs779134450
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014875.3(KIF14):c.4475del (p.Asp1492fs) rs2527210283
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_032040.5(CCDC8):c.980del (p.Gln327fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836

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