ClinVar Miner

Submissions for variant NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) (rs104894188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000007667 SCV000056012 pathologic Diamond-Blackfan anemia 3 2009-06-25 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000007667 SCV000027868 pathogenic Diamond-Blackfan anemia 3 2006-12-01 no assertion criteria provided literature only

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