ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=)

dbSNP: rs2102834901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473885 SCV001678047 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-07-19 criteria provided, single submitter clinical testing

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