ClinVar Miner

Variants studied for Usher syndrome type 1C

Included ClinVar conditions (3):
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
14 49 202 30 56 3 333

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
USH1C 14 49 202 30 56 3 333

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 7 2 101 7 21 0 138
Counsyl 2 28 64 13 0 0 107
Illumina Laboratory Services, Illumina 0 0 57 8 16 0 81
Genome-Nilou Lab 0 0 2 1 36 0 39
Fulgent Genetics, Fulgent Genetics 4 1 12 2 1 0 20
Myriad Genetics, Inc. 2 14 2 0 0 0 18
OMIM 10 0 1 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 1

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