ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) (rs200624735)

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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 RCV000287585 SCV000332124 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
Invitae RCV001086597 SCV000640877 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001086597 SCV001456995 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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