Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000225872 | SCV000285293 | benign | Tuberous sclerosis 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000248153 | SCV000305174 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001697577 | SCV000723105 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000225872 | SCV002041470 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255327 | SCV002531068 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-25 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255327 | SCV002737221 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-28 | 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. |