ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.1005T>C (p.Asp335=)

gnomAD frequency: 0.00002  dbSNP: rs751363552
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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 RCV001460329 SCV001664196 likely benign GM3 synthase deficiency 2023-09-20 criteria provided, single submitter clinical testing

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