ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)

gnomAD frequency: 0.00001  dbSNP: rs542970560
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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 RCV001197022 SCV001367657 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-03-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002561049 SCV003445639 likely benign Rubinstein-Taybi syndrome 2023-06-20 criteria provided, single submitter clinical testing

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