ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1408A>G (p.Ser470Gly)

gnomAD frequency: 0.00006  dbSNP: rs201288335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915693 SCV001060909 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000915693 SCV005334350 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003958377 SCV004770713 likely benign COL9A3-related disorder 2021-10-06 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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