Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153117 | SCV000202574 | uncertain significance | not provided | 2014-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078500 | SCV001021492 | benign | Rubinstein-Taybi syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153117 | SCV001862481 | benign | not provided | 2020-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433668 | SCV002752731 | benign | Inborn genetic diseases | 2019-09-17 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Prevention |
RCV003937420 | SCV004749296 | likely benign | CREBBP-related condition | 2021-06-15 | 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). |