ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.654T>A (p.Ala218=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005064741 SCV005696799 likely benign not provided 2024-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896897 SCV004709145 likely benign COL9A1-related disorder 2021-04-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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