ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.842-4A>G

gnomAD frequency: 0.00001  dbSNP: rs750335648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651079 SCV000772929 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937972 SCV004749560 likely benign B3GALNT2-related disorder 2021-08-16 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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