ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) (rs374042455)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656413 SCV000778421 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2017-04-26 criteria provided, single submitter clinical testing
OMIM RCV000684835 SCV000812295 pathogenic MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 2018-10-01 no assertion criteria provided literature only

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