ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) (rs144634228)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246148 SCV000307320 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV001081492 SCV000763093 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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