ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys)

gnomAD frequency: 0.00004  dbSNP: rs146090744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538914 SCV000653540 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001722513 SCV000716122 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722513 SCV005051460 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing B3GALNT2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003945302 SCV004763369 likely benign B3GALNT2-related disorder 2023-05-05 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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