ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)

dbSNP: rs367543069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578390 SCV000680150 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-12-07 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy pages (B3GALNT2) RCV000119385 SCV000154292 not provided not provided no assertion provided not provided

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