ClinVar Miner

Variants from Otogenetics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Otogenetics: Collection method of the submission from Otogenetics:
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
39 60 1 49 0 0 12 55

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
Otogenetics pathogenic likely pathogenic uncertain significance
pathogenic 1 39 6
likely pathogenic 10 0 6

Submitter to submitter summary #

Total submitters: 49
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
Counsyl 0 3 0 11 0 0 3 14
Baylor Genetics 0 49 0 8 0 0 2 10
Fulgent Genetics, Fulgent Genetics 0 45 0 9 0 0 1 10
Labcorp Genetics (formerly Invitae), Labcorp 0 37 0 5 0 0 1 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 33 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 3 0 0 1 4
Myriad Genetics, Inc. 0 18 0 4 0 0 0 4
Natera, Inc. 0 40 0 4 0 0 0 4
3billion 0 10 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 12 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 20 0 3 0 0 0 3
Ambry Genetics 0 1 0 1 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 1 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 2 0 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 0 0 1 0 0 1 2
OLLIN Analises Genomicas, OLLIN 0 1 0 2 0 0 0 2
Revvity Omics, Revvity 0 14 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 2 0 0 0 0 1 1
CFTR-France 0 5 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 3 0 1 0 0 0 1
Dasa 0 2 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 11 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 4 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 7 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 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 1 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 5 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 1 0 0 0 1
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO) 0 0 0 0 0 0 1 1
OMIM 0 20 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 3 0 1 0 0 0 1
Sema4, Sema4 0 0 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 0 0 1 0 0 0 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: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00030
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00027
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00021
NM_000500.9(CYP21A2):c.1100G>A (p.Arg367His) rs376035565 0.00017
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00014
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) rs572292275 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu) rs563053401 0.00001
NM_000492.4(CFTR):c.164+2T>C rs121908800 0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00001
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401 0.00001
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_000049.4(ASPA):c.358_361del (p.Ser120fs) rs2073633067
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612

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