Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001417949 | SCV001620163 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000920179 | SCV001753012 | likely benign | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416140 | SCV002725625 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-02-15 | 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 |
RCV003923272 | SCV004745085 | 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). |