ClinVar Miner

Submissions for variant NM_004393.5(DAG1):c.331G>A (p.Asp111Asn) (rs117209107)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000335532 SCV000613062 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000335532 SCV000335938 benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Invitae RCV000556875 SCV000650621 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-09-01 criteria provided, single submitter clinical testing
OMIM RCV000190546 SCV000245427 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 2015-01-20 no assertion criteria provided literature only

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