ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)

gnomAD frequency: 0.00001  dbSNP: rs760992656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931764 SCV002212163 benign Ehlers-Danlos syndrome, classic type, 1 2024-08-10 criteria provided, single submitter clinical testing

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