ClinVar Miner

Submissions for variant NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)

dbSNP: rs587777569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000128851 SCV001366865 likely pathogenic Diamond-Blackfan anemia 13 2019-06-26 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PM2,PP3.
OMIM RCV000128851 SCV000172683 pathogenic Diamond-Blackfan anemia 13 2014-07-03 no assertion criteria provided literature only

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