Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000459470 | SCV000518089 | benign | not provided | 2018-07-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22903760) |
Invitae | RCV001081201 | SCV000556677 | benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564954 | SCV000675505 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-18 | 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. |
Ce |
RCV000459470 | SCV001150725 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BS1 |
Genome- |
RCV001081201 | SCV002040284 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564954 | SCV002534051 | benign | Hereditary cancer-predisposing syndrome | 2021-02-23 | criteria provided, single submitter | curation | |
Prevention |
RCV003924998 | SCV004740855 | likely benign | TSC2-related condition | 2021-11-15 | 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). |
Tuberous sclerosis database |
RCV000042630 | SCV000066424 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |