ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala)

gnomAD frequency: 0.00001  dbSNP: rs1252498034
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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 RCV002041192 SCV002310453 benign not provided 2024-08-04 criteria provided, single submitter clinical testing
GeneDx RCV002041192 SCV005081300 uncertain significance not provided 2024-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function

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