Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724187 | SCV000227917 | uncertain significance | not provided | 2014-10-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000176286 | SCV000594804 | likely benign | not specified | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082209 | SCV000639778 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317022 | SCV000850278 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-10-18 | 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. |
Gene |
RCV000724187 | SCV000983762 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |