Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861344 | SCV001001632 | likely benign | Developmental and epileptic encephalopathy, 9 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655611 | SCV001868041 | likely benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372395 | SCV002625300 | likely benign | Inborn genetic diseases | 2017-07-10 | 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 |
RCV003908156 | SCV004719918 | likely benign | PCDH19-related condition | 2019-06-10 | 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). |