ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)

gnomAD frequency: 0.00006  dbSNP: rs751180898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873328 SCV001015299 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2023-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001577000 SCV001804305 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing

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