ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) (rs730882237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162167 SCV000196453 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2014-12-01 no assertion criteria provided research
OMIM RCV000417196 SCV000502997 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2018-01-16 no assertion criteria provided literature only

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