ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) (rs184262608)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000081139 SCV000614181 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081139 SCV000113047 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000081139 SCV000515941 benign not specified 2016-08-03 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 RCV000537163 SCV000640833 benign Nemaline myopathy 2 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081139 SCV000307375 benign not specified criteria provided, single submitter clinical testing

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