ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) (rs768708852)

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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 RCV000179665 SCV000231949 uncertain significance not provided 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV001080491 SCV001017559 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080491 SCV001454950 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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