Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227920 | SCV000285385 | benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719788 | SCV000515044 | benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16981987) |
Ambry Genetics | RCV000573845 | SCV000675558 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-23 | 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- |
RCV000227920 | SCV002039416 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000573845 | SCV002533493 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-21 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000227920 | SCV004016175 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001719788 | SCV004129852 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Prevention |
RCV003964899 | SCV004782595 | likely benign | TSC2-related condition | 2022-04-15 | 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 |
RCV000043311 | SCV000067117 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |