ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005036001 SCV005669628 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 2024-04-18 criteria provided, single submitter clinical testing

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