ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys)

gnomAD frequency: 0.00001  dbSNP: rs515726186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV002262712 SCV002543827 likely pathogenic Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction criteria provided, single submitter clinical testing
GeneReviews RCV000118991 SCV000153689 not provided RRM2B-related mitochondrial disease no assertion provided literature only

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