ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) (rs143933602)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248083 SCV000307401 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725702 SCV000338739 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000248083 SCV000523700 likely benign not specified 2017-08-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080324 SCV000640888 likely benign Nemaline myopathy 2 2019-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080324 SCV001454968 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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