ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.546C>T (p.Asp182=)

gnomAD frequency: 0.00022  dbSNP: rs147315816
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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 RCV000552430 SCV000638853 likely benign GM3 synthase deficiency 2024-01-24 criteria provided, single submitter clinical testing

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