ClinVar Miner

Submissions for variant NM_001031.5(RPS28):c.1A>G (p.Met1Val) (rs786203997)

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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 RCV000167573 SCV000246138 pathogenic Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 2015-05-19 criteria provided, single submitter research
OMIM RCV000167573 SCV000218453 pathogenic Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 2018-03-14 no assertion criteria provided literature only

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