Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000282340 | SCV000332960 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000282340 | SCV000594219 | likely benign | not specified | 2016-11-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311401 | SCV000847281 | likely benign | Inborn genetic diseases | 2016-07-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001517239 | SCV001725709 | benign | Rubinstein-Taybi syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422190 | SCV004144963 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4, BP7 |
Prevention |
RCV003897603 | SCV004724372 | likely benign | CREBBP-related condition | 2021-07-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |