ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.*74del

dbSNP: rs886062569
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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 RCV000385688 SCV000470994 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281987 SCV000470995 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480247 SCV002777738 uncertain significance Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 2022-02-13 criteria provided, single submitter clinical testing

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