Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001497032 | SCV001701746 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820204 | SCV002071009 | likely benign | not specified | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002421138 | SCV002681079 | 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- |
RCV003127971 | SCV003802506 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127972 | SCV003802507 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing |