ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*271C>G

gnomAD frequency: 0.15598  dbSNP: rs1020670
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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 RCV000370573 SCV000483348 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268977 SCV000483349 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618539 SCV001844136 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618539 SCV005216587 likely benign not provided criteria provided, single submitter not provided

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