ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.105G>A (p.Thr35=) (rs368075131)

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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 RCV000153557 SCV000203087 uncertain significance not provided 2014-01-27 criteria provided, single submitter clinical testing
Invitae RCV001080299 SCV001021828 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080299 SCV001459639 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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