ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.234T>C (p.Cys78=) (rs565102282)

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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 RCV000270595 SCV000378399 uncertain significance Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323328 SCV000378400 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing

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