Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313585 | SCV000848697 | benign | Inborn genetic diseases | 2016-06-23 | 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. |
Invitae | RCV000870670 | SCV001012195 | benign | KBG syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613443 | SCV001842338 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000870670 | SCV002524206 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938071 | SCV004747607 | likely benign | ANKRD11-related condition | 2019-04-02 | 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). |