Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000122204 | SCV000153113 | likely benign | not specified | 2014-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000163424 | SCV000213969 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-21 | criteria provided, single submitter | clinical testing | Other data supporting benign classification;Subpopulation frequency in support of benign classification |
Gene |
RCV000122204 | SCV000243540 | likely benign | not specified | 2017-12-05 | 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 | RCV000227708 | SCV000285236 | benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000227708 | SCV000296948 | uncertain significance | Tuberous sclerosis 2 | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000122204 | SCV000305143 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000122204 | SCV000340586 | likely benign | not specified | 2016-03-24 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000054863 | SCV000395576 | likely benign | Tuberous sclerosis syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Knight Diagnostic Laboratories, |
RCV000227708 | SCV000493815 | uncertain significance | Tuberous sclerosis 2 | 2016-01-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283101 | SCV000605464 | likely benign | none provided | 2019-09-25 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000034643 | SCV000610912 | likely benign | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034643 | SCV000043526 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Tuberous sclerosis database |
RCV000054863 | SCV000067257 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000122204 | SCV000086425 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Department of Genetics, |
RCV000201296 | SCV000222732 | uncertain significance | Hirschsprung disease 1 | 2015-04-01 | no assertion criteria provided | research |