ClinVar Miner

Variants studied for Usher syndrome, type 1F

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
17 85 181 11 1 288

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCDH15 16 82 180 11 1 283
LOC105378311, PCDH15 0 3 1 0 0 4
LOC105378311, MIR548F1, PCDH15 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 1 81 181 11 1 275
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 0 0 0 0 10
OMIM 6 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 5 1 0 0 0 6
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 2
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
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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