Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417966 | SCV000518089 | likely benign | not specified | 2017-03-28 | 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 | RCV000459470 | SCV000556677 | benign | Tuberous sclerosis 2 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564954 | SCV000675505 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-29 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Subpopulation frequency in support of benign classification,Intact protein function observed in appropriate functional assay(s) |
Tuberous sclerosis database |
RCV000042630 | SCV000066424 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |