ClinVar Miner

Submissions for variant NM_001165928.3(DAG1):c.1773C>T (p.Phe591=) (rs2229010)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000024447 SCV000229035 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
Invitae RCV000547858 SCV000650606 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-07-21 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (DAG1) RCV000024447 SCV000045742 not provided not provided 2011-05-13 no assertion provided curation

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