ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) (rs149639365)

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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 RCV000081109 SCV000113017 benign not specified 2013-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000081109 SCV000528060 likely benign not specified 2017-10-06 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 RCV000555761 SCV000640514 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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