Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189959 | SCV000243630 | benign | not specified | 2014-11-22 | 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 | RCV000477063 | SCV000556493 | benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569174 | SCV000675586 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-28 | 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- |
RCV000477063 | SCV002041225 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569174 | SCV002533963 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-07 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000477063 | SCV004016133 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003390755 | SCV004133804 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Tuberous sclerosis database |
RCV000055368 | SCV000083589 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |