ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.*2151_*2152insA

gnomAD frequency: 0.00332  dbSNP: rs563908556
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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 RCV000276092 SCV000470946 likely benign Progressive external ophthalmoplegia with mitochondrial DNA deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331163 SCV000470947 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing

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