ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.80G>A (p.Arg27His)

gnomAD frequency: 0.00016  dbSNP: rs150026024
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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 RCV001203859 SCV001375038 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001203859 SCV004022983 uncertain significance not provided 2023-01-26 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

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