ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.662+18_662+19del

dbSNP: rs369967911
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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 RCV001515526 SCV001723613 benign GM3 synthase deficiency 2025-02-03 criteria provided, single submitter clinical testing

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