Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558991 | SCV000652119 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289007 | SCV001476495 | benign | not specified | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613362 | SCV001833212 | benign | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456223 | SCV002617708 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |
Prevention |
RCV003935496 | SCV004747864 | likely benign | INF2-related condition | 2019-12-19 | 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). |