ClinVar Miner

Variants studied for congenital stationary night blindness 1C

Included ClinVar conditions (1):
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
10 5 10 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TRPM1 10 5 10 24

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 10 0 0 10
Illumina Clinical Services Laboratory,Illumina 0 0 7 7
Fulgent Genetics,Fulgent Genetics 0 0 2 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 1

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