ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val) (rs761799512)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526486 SCV000640549 uncertain significance Nemaline myopathy 2 2016-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000609942 SCV000714629 likely benign not specified 2017-07-11 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.
Natera, Inc. RCV000526486 SCV001460865 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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