ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) (rs146310692)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712395 SCV000842875 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000434743 SCV000513915 likely benign not specified 2017-12-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000366429 SCV000416982 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544186 SCV000640831 benign Nemaline myopathy 2 2017-04-27 criteria provided, single submitter clinical testing

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