ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) (rs376199241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000361431 SCV000337959 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV001088998 SCV000763096 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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