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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV001703792 SCV005264381 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004745376 SCV005352292 likely benign B3GALNT2-related disorder 2024-08-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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