ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)

dbSNP: rs1567263114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000710038 SCV000840413 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823101 SCV000963945 pathogenic Rubinstein-Taybi syndrome 2021-07-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000710038 SCV001369923 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-12-20 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM1,PM2,PP5.

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