ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3639C>T (p.Val1213=) (rs74320183)

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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 RCV000242708 SCV000337964 benign not specified 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000242708 SCV000724986 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 RCV000532781 SCV000640784 benign Nemaline myopathy 2 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242708 SCV000307348 likely benign not specified criteria provided, single submitter clinical testing

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