ClinVar Miner

Variants studied for Usher syndrome, type 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
27 22 2 0 4 55

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
MYO7A 14 12 2 3 31
USH1C 2 3 0 1 6
CDH23 2 2 0 0 4
PCDH15 4 0 0 0 4
ADGRV1 0 2 0 0 2
USH1G 2 0 0 0 2
USH2A 0 2 0 0 2
C10orf105, CDH23 1 0 0 0 1
CIB2 1 0 0 0 1
ESPN 1 0 0 0 1
OTOP2, USH1G 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 21 9 0 1 31
Counsyl 0 6 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 3 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 0 0 0 2
OMIM 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 1

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