ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1] (p.52_56LAQPA[1]) (rs377452683)

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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 RCV000081121 SCV000113029 benign not specified 2013-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000081121 SCV000565320 benign not specified 2017-12-05 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 RCV000549605 SCV000640588 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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