Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000735096 | SCV000250601 | uncertain significance | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213632; Landrum et al., 2016) |
Invitae | RCV003761820 | SCV000831306 | likely benign | FG syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000735096 | SCV000863291 | uncertain significance | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000766103 | SCV000897582 | uncertain significance | X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408870 | SCV002675507 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-13 | 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. |
Revvity Omics, |
RCV000735096 | SCV003810872 | uncertain significance | not provided | 2021-05-27 | criteria provided, single submitter | clinical testing |