Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190054 | SCV000243729 | likely benign | not specified | 2017-02-07 | 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 | RCV000228440 | SCV000285474 | benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571293 | SCV000664661 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-18 | 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 |
RCV001531837 | SCV001747135 | likely benign | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000228440 | SCV002041265 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571293 | SCV002534107 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-24 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000055452 | SCV000083673 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |