ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.819A>G (p.Leu273=) (rs149781186)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326452 SCV000378383 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378773 SCV000378384 uncertain significance Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000606596 SCV000716267 likely benign not specified 2017-03-08 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.

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