Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001461196 | SCV001665082 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002342026 | SCV002640026 | likely benign | Inborn genetic diseases | 2022-02-15 | 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- |
RCV003127935 | SCV003801909 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127936 | SCV003801910 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001461196 | SCV004148510 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BP7 |