ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) (rs770192528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079435 SCV000640806 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592277 SCV000708568 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079435 SCV001462189 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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