Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081975 | SCV000113910 | uncertain significance | not provided | 2013-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316265 | SCV000851858 | likely benign | Inborn genetic diseases | 2017-08-11 | 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. |
Invitae | RCV000081975 | SCV001041297 | benign | not provided | 2018-04-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945024 | SCV004765999 | likely benign | NLGN3-related condition | 2023-01-12 | 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). |