ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17061C>G (p.Val5687=) (rs199756204)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000396918 SCV000337960 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV001080418 SCV001052872 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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