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 22 4 14 6 0 9 28

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
pathogenic 4 7 0 1 0
likely pathogenic 3 0 3 0 0
uncertain significance 3 3 0 2 0
likely benign 1 0 3 0 1
benign 0 0 1 3 0

Submitter to submitter summary #

Total submitters: 18
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 33 0 6 4 0 1 11
GeneDx 0 14 0 4 2 0 1 7
Illumina Clinical Services Laboratory,Illumina 0 7 0 2 2 0 2 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 18 0 1 4 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 6 0 0 0 0 4 4
Counsyl 0 16 0 4 0 0 0 4
GeneReviews 0 1 4 0 0 0 0 4
OMIM 0 9 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 4 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 6 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 5 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 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 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.365dup (p.Ile124Tyrfs) rs786204730
NM_000441.1(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
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.701A>G (p.Gln234Arg) rs144682235
NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.8682-9A>G rs372347027

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