ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.4-2A>T (rs786203998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000191913 SCV000246136 pathogenic Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 2015-05-19 criteria provided, single submitter research
OMIM RCV000167575 SCV000218455 pathogenic Diamond-Blackfan anemia 10 2014-09-01 no assertion criteria provided literature only

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