ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)

gnomAD frequency: 0.00264  dbSNP: rs1190625
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704619 SCV000569522 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Invitae RCV000560179 SCV000654125 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704619 SCV004699773 benign not provided 2023-12-01 criteria provided, single submitter clinical testing B4GAT1: BP4, BP7, BS1, BS2

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