Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644335 | SCV000766028 | likely benign | Tuberous sclerosis 2 | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020694 | SCV001182204 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-08 | 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. |
Genome- |
RCV000644335 | SCV002039344 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392487 | SCV004133848 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Prevention |
RCV003892459 | SCV004717546 | likely benign | TSC2-related condition | 2021-05-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |