Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500638 | SCV000595473 | likely benign | not specified | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002056853 | SCV002386524 | benign | Spastic paraplegia | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350120 | SCV002619340 | benign | Inborn genetic diseases | 2019-02-08 | 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. |
Prevention |
RCV003962387 | SCV004780858 | likely benign | L1CAM-related condition | 2020-04-07 | 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). |