ClinVar Miner

Variants studied for Brachydactyly

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
0 0 58 103 42 203

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination uncertain significance likely benign benign total
ROR2 17 45 14 76
BMPR1B 27 34 14 75
IHH 9 13 6 28
GDF5, GDF5OS 2 7 5 14
GDF5, LOC109461476 2 2 2 6
GDF5 1 2 1 4

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 58 103 42 203

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