ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.322+2_322+4dup

dbSNP: rs1554164160
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490474 SCV000267483 uncertain significance Diamond-Blackfan anemia 9 2016-03-18 criteria provided, single submitter reference population

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