Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000539622 | SCV000533885 | likely benign | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000430580 | SCV000594808 | likely benign | not specified | 2016-12-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001419682 | SCV001621942 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411400 | SCV002716045 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-03 | 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 |
RCV003942448 | SCV004764913 | likely benign | FLNA-related condition | 2019-04-01 | 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). |