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
PreventionGenetics,PreventionGenetics RCV000242708 SCV000307348 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000242708 SCV000337964 benign not specified 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV000532781 SCV000640784 benign Nemaline myopathy 2 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001697719 SCV000724986 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing

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