Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194997 | SCV000246885 | benign | not specified | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311293 | SCV000847008 | likely benign | Inborn genetic diseases | 2016-07-05 | 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 | RCV000974305 | SCV001122123 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967494 | SCV004777240 | benign | CC2D1A-related condition | 2019-09-06 | 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). |