ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) (rs74482326)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251605 SCV000307356 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251605 SCV000331865 benign not specified 2015-12-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514932 SCV000609925 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001081407 SCV000640800 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000251605 SCV000724988 likely benign not specified 2017-11-27 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.

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