Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000463803 | SCV000520600 | benign | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32211034) |
Invitae | RCV001086052 | SCV000556517 | benign | Tuberous sclerosis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565188 | SCV000675482 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-02 | 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 | RCV000463803 | SCV001146281 | benign | not provided | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000463803 | SCV001150711 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Genome- |
RCV001086052 | SCV002039759 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000565188 | SCV002533410 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-03 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000463803 | SCV004221437 | benign | not provided | 2019-01-22 | criteria provided, single submitter | clinical testing |