Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230257 | SCV000289596 | benign | Intellectual disability, autosomal dominant 5 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317767 | SCV000850761 | likely benign | Inborn genetic diseases | 2016-09-14 | 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. |
Gene |
RCV001723819 | SCV001949654 | benign | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955355 | SCV004774648 | benign | SYNGAP1-related condition | 2022-04-06 | 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). |