ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.96G>A (p.Glu32=)

gnomAD frequency: 0.00001  dbSNP: rs1573652712
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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 RCV001506355 SCV001711276 likely benign GM3 synthase deficiency 2022-03-19 criteria provided, single submitter clinical testing

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