ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*600C>T

gnomAD frequency: 0.08008  dbSNP: rs3600
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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 RCV000356136 SCV000378312 benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272290 SCV000483352 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320339 SCV000483353 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705255 SCV005216588 likely benign not provided criteria provided, single submitter not provided

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