ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) (rs146294986)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244077 SCV000332110 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000244077 SCV000530030 likely benign not specified 2018-02-16 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 RCV000526714 SCV000640632 benign Nemaline myopathy 2 2017-09-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244077 SCV000307271 benign not specified criteria provided, single submitter clinical testing

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