Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189917 | SCV000243578 | likely benign | not specified | 2012-12-18 | 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. |
Laboratory for Molecular Medicine, |
RCV000189917 | SCV000270957 | likely benign | not specified | 2015-10-12 | criteria provided, single submitter | clinical testing | p.Ala1141Thr in exon 30 of TSC2: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, five mammals (squirrel monkey, pig, ferret, hedgehog,and tasmanian devil) have a threonine (T) at this position. Additionally, it has been identified in 0 .6% (50/8590) of East Asian chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org, dbSNP rs45505895). |
Invitae | RCV000230427 | SCV000285346 | benign | Tuberous sclerosis 2 | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000042517 | SCV000395626 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567355 | SCV000675474 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-22 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Subpopulation frequency in support of benign classification |
Tuberous sclerosis database |
RCV000042517 | SCV000066308 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
CSER_CC_NCGL; University of Washington Medical Center | RCV000042517 | SCV000190668 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |