Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868584 | SCV001009929 | likely benign | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816984 | SCV002064921 | likely benign | not specified | 2018-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352556 | SCV002661296 | likely benign | Inborn genetic diseases | 2022-02-12 | 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. |
Genome- |
RCV003127526 | SCV003802660 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127527 | SCV003802661 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955661 | SCV004772420 | likely benign | ATR-related condition | 2019-07-10 | 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). |