ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.181+1del

dbSNP: rs1895903499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194602 SCV001364252 pathogenic Diamond-Blackfan anemia 10 2020-02-19 no assertion criteria provided clinical testing

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