Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003595865 | SCV000288800 | likely benign | FG syndrome | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697144 | SCV000725242 | likely benign | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30006928) |
Ce |
RCV001697144 | SCV002546180 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | MED12: PP2, BP4, BS1 |
Ambry Genetics | RCV002321600 | SCV002627101 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-25 | 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. |
Fulgent Genetics, |
RCV002492431 | SCV002801057 | likely benign | X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003985274 | SCV004758661 | likely benign | MED12-related disorder | 2022-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
ITMI | RCV000121329 | SCV000085502 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Gene |
RCV000228384 | SCV001809996 | not provided | FG syndrome 1 | no assertion provided | literature only | Reported in a male with nonspecific intellectual disability | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001697144 | SCV001953823 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001697144 | SCV001966193 | likely benign | not provided | no assertion criteria provided | clinical testing |