Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177325 | SCV000229172 | likely benign | not specified | 2015-02-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317030 | SCV000850224 | benign | Inborn genetic diseases | 2017-12-05 | 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. |
Invitae | RCV000902270 | SCV001046685 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955056 | SCV004781550 | likely benign | DLG3-related condition | 2019-04-08 | 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). |