ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) (rs117173425)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194537 SCV000248590 uncertain significance not specified 2014-10-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194537 SCV000338300 likely benign not specified 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000194537 SCV000527813 benign not specified 2017-01-04 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 RCV000538523 SCV000649921 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 2017-12-14 criteria provided, single submitter clinical testing

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