ClinVar Miner

Submissions for variant NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)

dbSNP: rs1961069899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001196219 SCV001366769 uncertain significance Acute myeloid leukemia 2019-07-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
OMIM RCV002293506 SCV002586990 pathogenic Cleidocranial dysplasia 2 2023-04-25 no assertion criteria provided literature only

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