Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433415 | SCV000535846 | likely benign | not specified | 2017-11-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000458601 | SCV000556688 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562526 | SCV000675633 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-19 | 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- |
RCV000458601 | SCV002039422 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562526 | SCV002533501 | benign | Hereditary cancer-predisposing syndrome | 2020-07-02 | criteria provided, single submitter | curation | |
Ce |
RCV003326343 | SCV004033434 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Tuberous sclerosis database |
RCV000055250 | SCV000083469 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |