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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251605 SCV000331865 benign not specified 2015-12-28 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.
Invitae RCV000547547 SCV000640800 likely benign Nemaline myopathy 2 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251605 SCV000307356 likely benign not specified criteria provided, single submitter clinical testing

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