Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001485082 | SCV001689509 | likely benign | not provided | 2023-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324078 | SCV002609663 | likely benign | Inborn genetic diseases | 2022-03-12 | 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- |
RCV003127959 | SCV003801688 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127960 | SCV003801689 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001485082 | SCV004148501 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BP7 |