Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720100 | SCV000520536 | likely benign | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640783 | SCV000762382 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392976 | SCV002674022 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV001720100 | SCV004165130 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BP7 |
Prevention |
RCV003912665 | SCV004731716 | likely benign | FLNA-related condition | 2019-04-02 | 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). |