Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000514089 | SCV000250678 | likely benign | not provided | 2020-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000227742 | SCV000287832 | likely benign | Shprintzen-Goldberg syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000195594 | SCV000309349 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000514089 | SCV000609855 | likely benign | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000227742 | SCV000678208 | uncertain significance | Shprintzen-Goldberg syndrome | 2017-08-01 | criteria provided, single submitter | clinical testing | SKI NM_003036.3 exon3 p.Ala399Val (c.1196C>T): This variant has not been reported in the literature but is present in 0.4% (117/24020) of African individuals, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141862996). This variant is present in ClinVar (Variation ID:213692). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV002315616 | SCV000739597 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000195594 | SCV004038949 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing |