Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312360 | SCV000846563 | likely benign | Inborn genetic diseases | 2017-03-21 | 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 | RCV000870855 | SCV001012405 | likely benign | KBG syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557420 | SCV001779178 | likely benign | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953264 | SCV004767863 | likely benign | ANKRD11-related condition | 2019-10-04 | 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). |