ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) (rs119463989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000336243 SCV000336522 pathogenic not provided 2015-10-30 criteria provided, single submitter clinical testing
OMIM RCV000003373 SCV000023531 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 2005-12-01 no assertion criteria provided literature only

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