Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000260439 | SCV000335679 | likely benign | not specified | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863532 | SCV001004214 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651307 | SCV001862210 | benign | not provided | 2020-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338834 | SCV002643003 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-09-15 | 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. |