ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*1415T>C

gnomAD frequency: 0.01556  dbSNP: rs114366772
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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 RCV000336275 SCV000378329 benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315133 SCV000483364 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362773 SCV000483365 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing

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