ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)

gnomAD frequency: 0.00041  dbSNP: rs143223962
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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 RCV001079253 SCV000773365 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000828148 SCV000969830 likely benign not provided 2020-08-17 criteria provided, single submitter clinical testing

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