ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly)

gnomAD frequency: 0.00013  dbSNP: rs765020486
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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 RCV002176201 SCV002479054 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV002176201 SCV003798588 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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