ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00001  dbSNP: rs765953819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508619 SCV001714887 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476811 SCV002792779 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 2021-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001508619 SCV003936538 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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