ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) (rs148729348)

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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 RCV000380699 SCV000378367 likely benign Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289715 SCV000378368 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329729 SCV000483376 likely benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing

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