ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.1170T>C (p.Asn390=)

gnomAD frequency: 0.00001  dbSNP: rs1229066524
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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 RCV000639998 SCV000761585 likely benign GM3 synthase deficiency 2017-11-03 criteria provided, single submitter clinical testing

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