ClinVar Miner

Submissions for variant NM_001172477.1(RRM2B):c.647C>T (p.Thr216Ile) (rs515726189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000505928 SCV000605046 uncertain significance not specified 2017-03-25 criteria provided, single submitter clinical testing
GeneReviews RCV000118997 SCV000153695 pathogenic RRM2B-related mitochondrial disease 2014-04-17 no assertion criteria provided literature only

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