ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1206C>T (p.Cys402=) (rs199695976)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724888 SCV000332161 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000263292 SCV000527291 likely benign not specified 2016-05-23 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 RCV001081018 SCV000640511 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081018 SCV001457265 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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