ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=)

dbSNP: rs1572482699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000874641 SCV001791201 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064771 SCV002437757 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056642 SCV005727248 likely benign not specified 2024-11-04 criteria provided, single submitter clinical testing

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