ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.1104-16dup

dbSNP: rs761612441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283693 SCV000378371 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341049 SCV000378372 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001642961 SCV001857636 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001642961 SCV002329112 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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