ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.954C>G (p.Ala318=)

dbSNP: rs1282618157
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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 RCV001417578 SCV001619783 likely benign GM3 synthase deficiency 2018-10-21 criteria provided, single submitter clinical testing

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