Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704267 | SCV000527055 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000426040 | SCV000594094 | likely benign | not specified | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000651643 | SCV000773497 | likely benign | Developmental and epileptic encephalopathy 94 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318459 | SCV000851477 | likely benign | Inborn genetic diseases | 2017-01-25 | 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 |
RCV003922783 | SCV004746202 | likely benign | CHD2-related condition | 2019-05-13 | 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). |