ClinVar Miner

Variants from ClinGen Hearing Loss Variant Curation Expert Panel, with conflicting interpretations

Location: United States — Primary collection method: curation
Minimum review status of the submission from ClinGen Hearing Loss Variant Curation Expert Panel,: Collection method of the submission from ClinGen Hearing Loss Variant Curation Expert Panel,:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
2 23 6 35 31 4 39 75

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
ClinGen Hearing Loss Variant Curation Expert Panel, pathogenic likely pathogenic uncertain significance likely benign benign affects other
pathogenic 6 10 3 3 1 2 0
likely pathogenic 10 0 14 1 0 0 1
uncertain significance 9 10 0 4 1 0 0
likely benign 1 2 15 0 3 0 1
benign 1 3 11 12 0 0 0

Submitter to submitter summary #

Total submitters: 33
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 58 0 13 7 0 4 24
Illumina Clinical Services Laboratory,Illumina 0 9 0 4 11 0 7 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 24 0 5 12 0 2 19
GeneDx 0 25 0 8 4 0 3 15
Counsyl 0 28 0 5 4 0 5 14
GeneReviews 0 1 6 0 0 0 6 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 11 0 1 4 0 4 9
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 2 0 7 9
Invitae 0 33 0 4 1 0 3 8
OMIM 0 10 0 1 1 0 5 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 4 0 1 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 6 0 0 2 0 3 5
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 4 0 4
Athena Diagnostics Inc 0 10 0 1 2 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 1 0 0 2 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 2 1 0 1 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 6 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 7 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 9 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1 0 0 1 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 2 0 0 0 2
Baylor Genetics 0 8 0 0 0 0 1 1
PreventionGenetics,PreventionGenetics 0 4 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 2 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 0 0 0 1 1
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 0 2 0 1 0 0 0 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606
NM_004086.3(COCH):c.629+5C>T rs202109231
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys) rs139165033
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) rs144012985
NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.2(TECTA):c.487-7C>G rs368627411
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_007123.5(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_007123.5(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5857+2T>C rs397518022
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382

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