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 not provided total
56 35 303 46 53 1 487

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO7A 33 22 193 28 34 1 304
PCDH15 4 1 109 18 17 0 149
USH1C 5 4 0 0 1 0 10
CDH23 6 3 0 0 0 0 9
USH1G 4 0 0 0 0 0 4
ADGRV1 0 2 0 0 0 0 2
C10orf105, CDH23 2 0 0 0 0 0 2
LOC105378311, PCDH15 0 0 1 0 1 0 2
USH2A 0 2 0 0 0 0 2
CIB2 1 0 0 0 0 0 1
ESPN 1 0 0 0 0 0 1
OTOP2, USH1G 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 301 46 50 0 397
GeneReviews 21 9 0 0 1 0 31
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 9 7 0 0 0 0 16
Counsyl 2 6 1 0 0 0 9
Molecular Genetics Laboratory,Institute for Ophthalmic Research 5 0 0 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
Mendelics 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 0 0 0 0 0 2
OMIM 0 0 1 0 0 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1

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