ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.18G>A (p.Ala6=)

gnomAD frequency: 0.00001  dbSNP: rs988720177
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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 RCV001399192 SCV001600977 likely benign GM3 synthase deficiency 2023-03-07 criteria provided, single submitter clinical testing

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