Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827047 | SCV000968659 | likely benign | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000827047 | SCV001684239 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000827047 | SCV002497229 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BP7 |
Ambry Genetics | RCV002409000 | SCV002675648 | 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: 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. |
Fulgent Genetics, |
RCV002478939 | SCV002802837 | likely benign | Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127481 | SCV003802504 | likely benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127482 | SCV003802505 | likely benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing |