ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) (rs886038435)

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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 RCV000244504 SCV000307214 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244504 SCV000729996 likely benign not specified 2017-10-26 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 RCV000641422 SCV000763063 uncertain significance Nemaline myopathy 2 2017-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641422 SCV001456740 likely benign Nemaline myopathy 2 2020-05-30 no assertion criteria provided clinical testing

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