Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130880 | SCV000185785 | benign | Hereditary cancer-predisposing syndrome | 2015-08-20 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype |
Invitae | RCV000204918 | SCV000261891 | benign | Tuberous sclerosis 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000122206 | SCV000336111 | likely benign | not specified | 2015-10-21 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000042922 | SCV000395580 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000122206 | SCV000540600 | benign | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (46/8536) European chromosomes; ClinVar: 2 labs classify as LB. 3/5 pubs describe as nonpathogenic. |
Tuberous sclerosis database |
RCV000042922 | SCV000066719 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000122206 | SCV000086427 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
CSER_CC_NCGL; University of Washington Medical Center | RCV000042922 | SCV000190665 | likely benign | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |