ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.*1242G>A

gnomAD frequency: 0.14342  dbSNP: rs10844336
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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 RCV000286166 SCV000378322 benign Lethal Encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350379 SCV000483362 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391184 SCV000483363 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing

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