ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) (rs114218081)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248183 SCV000307295 benign not specified 2016-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000248183 SCV000522738 benign not specified 2016-03-29 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 RCV000555624 SCV000640683 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000555624 SCV001463295 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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