Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001310735 | SCV000773190 | benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461975 | SCV000850299 | likely benign | Inborn genetic diseases | 2016-11-01 | 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. |
Ce |
RCV001310735 | SCV001500647 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001310735 | SCV001912660 | benign | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945656 | SCV004775008 | benign | NEXMIF-related condition | 2019-07-12 | 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). |