ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)

gnomAD frequency: 0.00001  dbSNP: rs1356081271
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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 RCV002242170 SCV001518155 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508647 SCV001714930 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing

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