ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe)

dbSNP: rs2114278741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002240142 SCV002512078 pathogenic Metaphyseal chondrodysplasia, Schmid type 2022-04-01 criteria provided, single submitter clinical testing

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