ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.1096A>G (p.Asn366Asp)

gnomAD frequency: 0.00001  dbSNP: rs1434714004
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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 RCV001321740 SCV001512584 uncertain significance GM3 synthase deficiency 2021-08-26 criteria provided, single submitter clinical testing

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