ClinVar Miner

Variants studied for Usher syndrome type 1F

Included ClinVar conditions (2):
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
36 114 465 69 68 717

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCDH15 36 111 460 69 66 707
LOC105378311, PCDH15 0 3 5 0 2 10

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 7 4 253 44 38 346
Counsyl 1 81 178 11 1 272
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 18 20 28 0 0 66
Fulgent Genetics, Fulgent Genetics 4 4 42 11 3 64
Genome-Nilou Lab 0 0 19 6 38 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 13 0 0 0 26
OMIM 6 0 0 0 0 6
Mendelics 2 0 0 0 4 6
Pars Genome Lab 0 0 3 1 1 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
3billion 1 0 0 0 0 1

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