ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.459A>G (p.Glu153=)

gnomAD frequency: 0.00006  dbSNP: rs555466537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001502316 SCV001707145 likely benign GM3 synthase deficiency 2023-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711694 SCV005257665 likely benign not provided criteria provided, single submitter not provided

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