ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.*2613del

gnomAD frequency: 0.00002  dbSNP: rs886062563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374603 SCV000470934 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280158 SCV000470935 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing

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