Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001395676 | SCV001597390 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002432092 | SCV002741546 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-13 | 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. |
Ce |
RCV003438757 | SCV004165110 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003490241 | SCV004241404 | likely benign | not specified | 2023-12-03 | criteria provided, single submitter | clinical testing |