ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) (rs766891631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434176 SCV000526486 likely benign not specified 2017-08-23 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 RCV000434176 SCV000593566 likely benign not specified 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000651077 SCV000772927 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-12-31 criteria provided, single submitter clinical testing

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