Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145982 | SCV000193131 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312641 | SCV000845955 | benign | Inborn genetic diseases | 2019-03-15 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV001523468 | SCV001733174 | benign | Rett syndrome, congenital variant | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004730883 | SCV005336543 | likely benign | FOXG1-related disorder | 2024-07-25 | no assertion criteria provided | 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). |