Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000543105 | SCV001783032 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002060351 | SCV002483100 | likely benign | Cutis laxa, autosomal recessive, type 1B | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420509 | SCV002678847 | likely benign | Cardiovascular phenotype | 2019-04-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488688 | SCV004240860 | likely benign | not specified | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905432 | SCV004718561 | likely benign | EFEMP2-related disorder | 2019-07-30 | 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). |