Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226285 | SCV000289595 | benign | Intellectual disability, autosomal dominant 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000502576 | SCV000597362 | likely benign | not specified | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311354 | SCV000846727 | likely benign | Inborn genetic diseases | 2016-05-15 | 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. |
Athena Diagnostics Inc | RCV000502576 | SCV001476875 | benign | not specified | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682941 | SCV001902165 | benign | not provided | 2018-08-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001682941 | SCV002545414 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SYNGAP1: BP4, BP7, BS1 |
Prevention |
RCV003939879 | SCV004754636 | benign | SYNGAP1-related condition | 2021-08-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |