ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.531T>C (p.Asp177=)

gnomAD frequency: 0.00001  dbSNP: rs754428636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415505 SCV001617665 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing

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