ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)

dbSNP: rs76148000
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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 RCV002242745 SCV001565779 benign Ehlers-Danlos syndrome, classic type, 1 2023-02-23 criteria provided, single submitter clinical testing
GeneDx RCV001773729 SCV002002095 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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