ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=)

dbSNP: rs764114280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659462 SCV000781277 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091896 SCV005753732 benign Ehlers-Danlos syndrome, classic type, 1 2024-05-19 criteria provided, single submitter clinical testing

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