ClinVar Miner

Submissions for variant NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) (rs1554841994)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine,University of Washington RCV000664315 SCV000788248 pathogenic Diamond-Blackfan anemia 3 2018-02-06 criteria provided, single submitter clinical testing RPS24 p.T50P was confirmed de novo by sequencing both parents of an affected proband.

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