ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.828G>T (p.Val276=)

gnomAD frequency: 0.00291  dbSNP: rs142956522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696891 SCV000569566 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000479684 SCV000593569 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530462 SCV000654123 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942589 SCV004759002 benign B4GAT1-related disorder 2023-01-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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