Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231695 | SCV000285395 | benign | Tuberous sclerosis 2 | 2017-12-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000043166 | SCV000395653 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000432048 | SCV000515045 | benign | not specified | 2015-04-29 | 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. |
Ambry Genetics | RCV000575893 | SCV000675584 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-03 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
EGL Genetic Diagnostics, |
RCV000432048 | SCV000709002 | likely benign | not specified | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043166 | SCV000066965 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |