ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.361+19T>C

gnomAD frequency: 0.00155  dbSNP: rs190977329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437263 SCV000530242 benign not specified 2016-09-30 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 RCV001512613 SCV001720059 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713969 SCV005287089 benign not provided criteria provided, single submitter not provided

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