ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*22A>T

gnomAD frequency: 0.15544  dbSNP: rs3200103
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275050 SCV000483346 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313747 SCV000483347 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660611 SCV001875637 benign Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660612 SCV001875638 benign Optic atrophy 5 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001683241 SCV001899228 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683241 SCV005216586 likely benign not provided criteria provided, single submitter not provided

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