Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313360 | SCV000739093 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-22 | 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 | RCV000869956 | SCV001011419 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-10-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001774 | SCV001159412 | likely benign | not specified | 2018-12-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905665 | SCV004719076 | likely benign | FLNA-related condition | 2019-07-30 | 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). |