Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189950 | SCV000243617 | likely benign | not specified | 2016-09-20 | 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 | RCV000469182 | SCV000544559 | benign | Tuberous sclerosis 2 | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491612 | SCV000579582 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-12-18 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
Tuberous sclerosis database |
RCV000043208 | SCV000067009 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
CSER_CC_NCGL; University of Washington Medical Center | RCV000043208 | SCV000190673 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |