Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724209 | SCV000229943 | uncertain significance | not provided | 2016-07-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724209 | SCV000250428 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314640 | SCV000739104 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-16 | 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 | RCV001087795 | SCV001002480 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724209 | SCV001248060 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000724209 | SCV001740809 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000724209 | SCV001797806 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000724209 | SCV001808873 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000724209 | SCV001929446 | likely benign | not provided | no assertion criteria provided | clinical testing |