ClinVar Miner

Variants studied for Usher syndrome

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 total
37 60 37 9 7 142

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 22 27 22 7 6 79
MYO7A 6 19 8 1 0 32
ADGRV1 3 6 0 0 0 8
CDH23 0 2 4 1 0 7
USH1C 1 3 0 0 0 4
PCDH15 0 3 0 0 0 3
C10orf105, CDH23 0 0 1 0 1 2
PROM1 1 0 1 0 0 2
ARSG 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 1
CEP250 1 0 0 0 0 1
GUCA1A, LOC118142757 1 0 0 0 0 1
HARS1 0 0 1 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ClinGen Hearing Loss Variant Curation Expert Panel 10 19 27 8 7 71
NIHR Bioresource Rare Diseases, University of Cambridge 8 35 8 1 0 52
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 11 7 0 0 0 18
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 1 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 4 1 0 0 0 5
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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