Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129666 | SCV000184464 | benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
EGL Genetic Diagnostics, |
RCV000122229 | SCV000229650 | benign | not specified | 2015-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000122229 | SCV000243587 | likely benign | not specified | 2017-09-27 | 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 | RCV000231518 | SCV000285372 | benign | Tuberous sclerosis 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000231518 | SCV000296950 | benign | Tuberous sclerosis 2 | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000122229 | SCV000305209 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000054864 | SCV000395636 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
ARUP Laboratories, |
RCV000122229 | SCV000605469 | benign | not specified | 2019-05-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000231518 | SCV000677543 | benign | Tuberous sclerosis 2 | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000034653 | SCV000697465 | benign | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | Variant summary: The TSC2 c.3889G>A (p.Ala1297Thr) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 193/33944 control chromosomes at a frequency of 0.0056858, which is approximately 83 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Center for Human Genetics, |
RCV000231518 | SCV000782408 | uncertain significance | Tuberous sclerosis 2 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000231518 | SCV001440892 | likely benign | Tuberous sclerosis 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034653 | SCV000043536 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Tuberous sclerosis database |
RCV000054864 | SCV000066967 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000122229 | SCV000086451 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |