ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8202C>T (p.Val2734=) (rs144595998)

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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 RCV000330965 SCV000332119 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
Invitae RCV001083786 SCV000640871 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083786 SCV001456998 likely benign Nemaline myopathy 2 2020-06-03 no assertion criteria provided clinical testing

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