ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*1093T>C

gnomAD frequency: 0.22300  dbSNP: rs1971910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000324028 SCV000483356 benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371686 SCV000483357 benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing

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