ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=)

gnomAD frequency: 0.00022  dbSNP: rs138058326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703792 SCV000523593 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Invitae RCV000533047 SCV000653545 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703792 SCV004126140 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing B3GALNT2: BP4, BP7

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