ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) (rs144051476)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000259157 SCV000152358 likely benign not specified 2015-12-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259157 SCV000227683 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000828432 SCV000970120 likely benign not provided 2018-04-09 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 RCV001088136 SCV001012185 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000828432 SCV001145184 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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