ClinVar Miner

Variants studied for Brachyrachia (short spine dysplasia)

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
3 0 36 10 58 107

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 3 33 10 58 104
MIR4497, TRPV4 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 36 10 58 104
OMIM 2 0 0 0 2
Baylor Genetics 1 0 0 0 1

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