ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) (rs201028196)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153539 SCV000203067 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Invitae RCV001080985 SCV000640727 likely benign Nemaline myopathy 2 2019-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080985 SCV001456460 uncertain significance Nemaline myopathy 2 2019-12-24 no assertion criteria provided clinical testing

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