Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318884 | SCV000851949 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-08-27 | 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. |
Invitae | RCV001514074 | SCV001721823 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567508 | SCV001791207 | likely benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908014 | SCV004734608 | likely benign | FLNA-related condition | 2022-04-26 | 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). |