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
63 89 571 88 152 1 947

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO7A 36 73 210 35 65 1 407
CDH23 10 5 224 29 54 0 319
PCDH15 4 1 109 18 17 0 149
C10orf105, CDH23 2 1 24 5 5 0 36
CDH23, PSAP 0 0 2 1 8 0 11
USH1C 5 4 1 0 1 0 11
USH1G 4 0 0 0 0 0 4
ADGRV1 0 2 0 0 0 0 2
LOC105378311, PCDH15 0 0 1 0 1 0 2
USH2A 0 2 0 0 0 0 2
CDH23, LOC111982869 0 0 0 0 1 0 1
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: 26
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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
Natera, Inc. 4 3 250 35 68 0 360
Nilou-Genome Lab 0 1 21 7 42 0 71
Myriad Women's Health, Inc. 0 48 0 0 0 0 48
GeneReviews 21 9 0 0 1 0 31
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 10 7 1 0 0 0 18
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
Pars Genome Lab 0 0 2 1 0 0 3
DBGen Ocular Genomics 1 2 0 0 0 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
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 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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