ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) (rs143722284)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601238 SCV000728957 likely benign not specified 2017-11-17 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 RCV000144956 SCV001061200 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Samuels research lab,Centre de Recherche du CHU Ste-Justine RCV000144717 SCV000190696 pathogenic Leigh syndrome 2014-04-01 no assertion criteria provided research
OMIM RCV000144956 SCV000191973 uncertain significance not provided 2014-11-01 no assertion criteria provided literature only

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