ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) (rs886049304)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000368302 SCV000378395 uncertain significance Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406428 SCV000378396 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing

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