ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) (rs541554381)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286673 SCV000378385 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320609 SCV000378386 uncertain significance Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488251 SCV000574921 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
Invitae RCV000488251 SCV001066283 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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