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
PreventionGenetics,PreventionGenetics RCV000244077 SCV000307271 benign not specified criteria provided, single submitter clinical testing
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 2019-12-31 criteria provided, single submitter clinical testing

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