ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.828G>T (p.Val276=) (rs142956522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479684 SCV000569566 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory,University of Chicago RCV000479684 SCV000593569 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000530462 SCV000654123 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2019-12-31 criteria provided, single submitter clinical testing

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