Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176481 | SCV000228145 | benign | not specified | 2014-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951517 | SCV001097922 | likely benign | Rubinstein-Taybi syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640269 | SCV001856316 | benign | not provided | 2019-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326963 | SCV002627185 | uncertain significance | Inborn genetic diseases | 2017-12-15 | criteria provided, single submitter | clinical testing | The c.4133+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 24 in the CREBBP gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003927626 | SCV004743219 | benign | CREBBP-related condition | 2021-09-14 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |