ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)

dbSNP: rs111033547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000019025 SCV005416167 likely pathogenic Metaphyseal chondrodysplasia, Schmid type criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4_Supporting+PP4
OMIM RCV000019025 SCV000039312 pathogenic Metaphyseal chondrodysplasia, Schmid type 1995-01-01 no assertion criteria provided literature only

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