ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)

dbSNP: rs797045919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195166 SCV000248733 pathogenic Diamond-Blackfan anemia 10 2015-04-14 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000195166 SCV000890879 pathogenic Diamond-Blackfan anemia 10 2018-03-27 criteria provided, single submitter clinical testing

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