Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163390 | SCV000213930 | benign | Hereditary cancer-predisposing syndrome | 2018-08-27 | criteria provided, single submitter | clinical testing | Co-occurence with mutation in same gene (phase unknown);Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Subpopulation frequency in support of benign classification |
EGL Genetic Diagnostics, |
RCV000176271 | SCV000227901 | likely benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176271 | SCV000243566 | benign | not specified | 2016-07-05 | 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 | RCV000989426 | SCV000261305 | benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000034649 | SCV000280642 | likely benign | not provided | 2015-10-05 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Laboratory for Molecular Medicine, |
RCV000176271 | SCV000540606 | uncertain significance | 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: 0.1% (62/65736) European chromsomes; ClinVar: 4 labs classify as LB. |
Genetic Services Laboratory, |
RCV000176271 | SCV000597595 | likely benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989426 | SCV001139749 | likely benign | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000054857 | SCV001277497 | likely benign | Tuberous sclerosis syndrome | 2019-03-14 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034649 | SCV000043532 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Tuberous sclerosis database |
RCV000054857 | SCV000067262 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
CSER _CC_NCGL, |
RCV000054857 | SCV000190663 | likely benign | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |