ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.924-10C>T (rs142122657)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081577 SCV000113508 benign not specified 2012-10-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081577 SCV000248594 likely benign not specified 2014-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000081577 SCV000519996 likely benign not specified 2017-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000553099 SCV000649948 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2019-12-31 criteria provided, single submitter clinical testing

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