ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) (rs367543073)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000034847 SCV000058417 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2013-03-07 no assertion criteria provided literature only
Leiden Muscular Dystrophy pages (B3GALNT2) RCV000119388 SCV000154295 not provided not provided no assertion provided not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000034847 SCV000244034 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2013-06-27 no assertion criteria provided literature only

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