Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475414 | SCV000544354 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571641 | SCV000675552 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Gene |
RCV001712416 | SCV000714863 | likely benign | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27723760, 29500070) |
Genome- |
RCV000475414 | SCV002041465 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912797 | SCV004732706 | likely benign | TSC2-related condition | 2023-05-24 | 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). |