Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437738 | SCV000522078 | likely benign | not specified | 2015-12-31 | 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 | RCV000864076 | SCV001004829 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356550 | SCV002653953 | 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: 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- |
RCV003126724 | SCV003802675 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126725 | SCV003802676 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000864076 | SCV004148491 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BP7 |
Prevention |
RCV003972612 | SCV004789627 | likely benign | ATR-related disorder | 2024-01-05 | 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). |