ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser)

gnomAD frequency: 0.00001  dbSNP: rs759291514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509382 SCV001716058 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564286 SCV003472648 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-05-01 criteria provided, single submitter clinical testing

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