Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000658775 | SCV000229220 | uncertain significance | not provided | 2014-06-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000177371 | SCV000596711 | benign | not specified | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658775 | SCV000780570 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | RAI1: BP4 |
Gene |
RCV000658775 | SCV001881525 | benign | not provided | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000658775 | SCV002469810 | benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321704 | SCV002631839 | benign | Inborn genetic diseases | 2018-01-23 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Prevention |
RCV003927646 | SCV004745879 | likely benign | RAI1-related condition | 2021-03-07 | 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). |
Laboratory of Diagnostic Genome Analysis, |
RCV000658775 | SCV001798871 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000658775 | SCV001968751 | likely benign | not provided | no assertion criteria provided | clinical testing |