ClinVar Miner

Variants studied for Hearing loss, autosomal recessive

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
10 165 160 43 3 1 380

Gene and significance breakdown #

Total genes and gene combinations: 70
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LHFPL5 0 2 34 2 0 0 38
MYO7A 0 26 3 2 0 0 31
RDX 0 0 22 4 0 0 26
CDH23 0 12 10 2 0 0 24
CDH23, PSAP 0 0 15 8 0 0 23
SLC26A4 1 16 3 0 0 0 20
TMC1 0 16 1 1 0 0 18
OTOF 1 10 3 1 0 0 15
MYO15A 0 6 7 0 0 0 13
MYO6 0 0 5 7 1 0 13
GJB2 1 8 1 0 1 1 10
TBCEL-TECTA, TECTA 0 5 4 1 0 0 10
TMPRSS3 0 6 2 2 0 0 10
MYO3A 0 0 8 1 0 0 9
PCDH15 0 1 8 0 0 0 9
PJVK 0 4 3 0 0 0 7
LOXHD1 1 0 4 1 0 0 6
GPSM2 2 1 1 1 0 0 5
ILDR1 0 5 0 0 0 0 5
TMIE 0 2 3 0 0 0 5
MARVELD2 0 2 2 0 0 0 4
PJVK, PRKRA 0 0 0 4 0 0 4
ANAPC15, LRTOMT 0 0 2 1 0 0 3
ANAPC15, LRTOMT, TOMT 0 0 2 1 0 0 3
C10orf105, CDH23 0 2 1 0 0 0 3
ESRRB 0 1 1 1 0 0 3
GRXCR1 0 2 1 0 0 0 3
LRTOMT 0 0 2 1 0 0 3
OTOA 1 2 0 0 0 0 3
USH1C 0 2 0 0 1 0 3
WHRN 0 1 1 1 0 0 3
ANKRD36 0 2 0 0 0 0 2
CIB2 0 2 0 0 0 0 2
GJB3 0 0 2 0 0 0 2
GPR156 0 2 0 0 0 0 2
LRRC51, LRTOMT 0 0 2 0 0 0 2
OTOGL 0 1 1 0 0 0 2
PTPRQ 0 2 0 0 0 0 2
TRIOBP 0 2 0 0 0 0 2
USH1G 0 2 0 0 0 0 2
ADGRV1 0 1 0 0 0 0 1
BSND 0 1 0 0 0 0 1
CABP2 0 1 0 0 0 0 1
CDH23, LOC111982869 0 1 0 0 0 0 1
CLCC1, GPSM2 0 0 1 0 0 0 1
CLCNKA, LOC106501712 0 1 0 0 0 0 1
CLDN14 0 1 0 0 0 0 1
CLIC5 0 1 0 0 0 0 1
EDNRB 0 1 0 0 0 0 1
EPS8 0 1 0 0 0 0 1
ESPN 0 1 0 0 0 0 1
GIPC3 0 1 0 0 0 0 1
GOSR2, LRRC37A2 0 1 0 0 0 0 1
GRXCR2 1 0 0 0 0 0 1
KCNJ10 0 0 1 0 0 0 1
LHFPL5, LOC129996260 0 0 0 1 0 0 1
LOC105371566, MYO15A 0 0 1 0 0 0 1
LOC123956210, SLC26A4 0 1 0 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 0 0 1
LOC127814297, POU4F3 0 1 0 0 0 0 1
LOC129996737, MYO6 0 0 1 0 0 0 1
MSRB3 0 1 0 0 0 0 1
MYH9 1 0 0 0 0 0 1
OTOG 0 1 0 0 0 0 1
PCDH15, USH1G 1 0 0 0 0 0 1
PDZD7 0 0 1 0 0 0 1
SLC26A5 0 0 1 0 0 0 1
TOGARAM2 0 1 0 0 0 0 1
TPRN 0 1 0 0 0 0 1
USH2A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 157 43 3 0 204
University of Washington Center for Mendelian Genomics, University of Washington 0 156 0 0 0 0 156
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 0 4 0 0 0 0 4
Hereditary Research Laboratory, Bethlehem University 3 0 0 0 0 0 3
OMIM 0 0 2 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 2
Human Genetics Research Lab, Central University of Jammu 2 0 0 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
University of Arizona Genetics Core, University of Arizona 1 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 1

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