ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19284C>T (p.His6428=) (rs201005449)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601129 SCV000721481 likely benign not specified 2017-07-27 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 RCV000875939 SCV001018428 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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