Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001567118 | SCV001790753 | likely benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Invitae | RCV002515831 | SCV003211494 | uncertain significance | Rubinstein-Taybi syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1204 of the CREBBP protein (p.Tyr1204Phe). This variant is present in population databases (rs200346970, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 133928). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
ITMI | RCV000120596 | SCV000084754 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |