ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) (rs28941782)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171882 SCV001334770 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
OMIM RCV000003394 SCV000023552 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2002-11-01 no assertion criteria provided literature only

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