ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1404A>G (p.Lys468=) (rs150491326)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724261 SCV000225893 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000195101 SCV000248588 uncertain significance not specified 2015-07-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195101 SCV000311980 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000195101 SCV000514255 likely benign not specified 2018-02-15 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 RCV000648188 SCV000770002 likely 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 2017-12-07 criteria provided, single submitter clinical testing

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