Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002415608 | SCV002724885 | likely benign | Inborn genetic diseases | 2018-03-21 | 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 | RCV002515837 | SCV003005506 | benign | Rubinstein-Taybi syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430674 | SCV004140988 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | CREBBP: BS1, BS2 |
Prevention |
RCV003905145 | SCV004718836 | benign | CREBBP-related condition | 2019-06-17 | 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). |
ITMI | RCV000120613 | SCV000084774 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |