Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613619 | SCV000717490 | likely benign | not specified | 2017-03-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002063077 | SCV002459587 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368050 | SCV002658281 | likely benign | Inborn genetic diseases | 2022-02-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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- |
RCV003126856 | SCV003801954 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126857 | SCV003801955 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935654 | SCV004752198 | likely benign | ATR-related disorder | 2019-07-29 | 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). |