ClinVar Miner

Variants studied for autosomal dominant congenital benign spinal muscular atrophy

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
5 0 42 12 58 116

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
TRPV4 5 39 11 58 112
MIR4497, TRPV4 0 3 1 0 4

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 36 12 58 106
Fulgent Genetics,Fulgent Genetics 1 5 0 0 6
OMIM 5 0 0 0 5
Institute of Human Genetics,Cologne University 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 1

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