ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)

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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 RCV002600124 SCV002942125 benign Ehlers-Danlos syndrome, classic type, 1 2022-06-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003491127 SCV004235416 uncertain significance not provided 2023-02-12 criteria provided, single submitter clinical testing

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