ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) (rs372540293)

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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 RCV000596728 SCV000707753 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001080825 SCV001018439 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080825 SCV001454437 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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