Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827545 | SCV000969198 | likely benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001424215 | SCV001626808 | likely benign | Cutis laxa, autosomal recessive, type 1B | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434038 | SCV002747788 | likely benign | Cardiovascular phenotype | 2019-12-23 | 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. |
Prevention |
RCV003892760 | SCV004709016 | likely benign | EFEMP2-related disorder | 2022-12-30 | 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). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987716 | SCV004803614 | likely benign | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing |