Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713943 | SCV000243718 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29778030, 29740858) |
Invitae | RCV001083713 | SCV000644625 | likely benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561869 | SCV000675639 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-09 | 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. |
Athena Diagnostics Inc | RCV000713943 | SCV000844591 | uncertain significance | not provided | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083713 | SCV002040269 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000561869 | SCV002534046 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-19 | criteria provided, single submitter | curation |