ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) (rs146090744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538914 SCV000653540 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000613413 SCV000716122 likely benign not specified 2017-10-17 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.

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