ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer)

dbSNP: rs515726199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023385 SCV000044676 pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 2011-06-07 no assertion criteria provided literature only
GeneReviews RCV000119013 SCV000153711 not provided RRM2B-related mitochondrial disease no assertion provided literature only
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000508947 SCV000575917 pathogenic Mitochondrial disease 2017-04-07 no assertion criteria provided clinical testing

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