ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp)

dbSNP: rs515726181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Translational Omics - GOSgene, University College London RCV000659255 SCV000778574 pathogenic Mitochondrial DNA depletion syndrome 8a 2018-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042220 SCV005669624 likely pathogenic 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 2024-02-06 criteria provided, single submitter clinical testing
GeneReviews RCV000118983 SCV000153681 not provided RRM2B-related mitochondrial disease no assertion provided literature only

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