Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130315 | SCV000185165 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-27 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
Gene |
RCV000189851 | SCV000243504 | likely benign | not specified | 2016-07-14 | 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. |
Illumina Clinical Services Laboratory, |
RCV000403767 | SCV000478219 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000295067 | SCV000478220 | likely benign | Focal cortical dysplasia type II | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000464079 | SCV000562485 | benign | Tuberous sclerosis 1 | 2017-11-28 | criteria provided, single submitter | clinical testing |