ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.117G>A (p.Gln39=)

gnomAD frequency: 0.12566  dbSNP: rs11537930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248765 SCV000311623 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248765 SCV000568081 benign not specified 2016-01-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520684 SCV001729852 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718142 SCV005318592 benign not provided criteria provided, single submitter not provided

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