ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.1009-7T>G

gnomAD frequency: 0.00002  dbSNP: rs745988252
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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 RCV002085578 SCV002372794 likely benign GM3 synthase deficiency 2024-01-19 criteria provided, single submitter clinical testing

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