Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704075 | SCV000243681 | benign | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30564305, 18386375, 25637381) |
Invitae | RCV000226143 | SCV000285256 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571093 | SCV000664744 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-11 | 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- |
RCV000226143 | SCV002041188 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571093 | SCV002530985 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-05 | criteria provided, single submitter | curation | |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153433 | SCV003843794 | likely pathogenic | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945179 | SCV004761692 | likely benign | TSC2-related condition | 2022-11-01 | 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). |
CSER _CC_NCGL, |
RCV000148918 | SCV000190671 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |