ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*600C>T (rs3600)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000356136 SCV000378312 benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272290 SCV000483352 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320339 SCV000483353 likely benign Mitochondrial myopathy and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing

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