Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517950 | SCV000613331 | likely benign | not specified | 2016-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000527230 | SCV000639823 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000517950 | SCV001157359 | likely benign | not specified | 2019-03-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548144 | SCV001768004 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278861 | SCV003994216 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV003960218 | SCV004773415 | likely benign | FLNA-related condition | 2020-01-16 | 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). |