ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.*126_*127del

gnomAD frequency: 0.00137  dbSNP: rs141873255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388515 SCV000378361 uncertain significance Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277846 SCV000378362 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373541 SCV000483374 likely benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing

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