Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619249 | SCV000736188 | likely benign | Cardiovascular phenotype | 2017-12-16 | 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. |
Invitae | RCV001487020 | SCV001691503 | likely benign | Myofibrillar myopathy 4 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584432 | SCV001811467 | likely benign | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330833 | SCV004038176 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965299 | SCV004777522 | likely benign | LDB3-related disorder | 2023-01-04 | 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). |