Total submissions: 30
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118692 | SCV000153107 | likely benign | not specified | 2014-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000118692 | SCV000169091 | benign | not specified | 2014-01-02 | 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. |
Ambry Genetics | RCV000129684 | SCV000184484 | benign | Hereditary cancer-predisposing syndrome | 2014-11-20 | 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. |
Eurofins Ntd Llc |
RCV000118692 | SCV000226570 | benign | not specified | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000034607 | SCV000280942 | benign | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000005410 | SCV000284695 | benign | Tuberous sclerosis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000005410 | SCV000296907 | benign | Tuberous sclerosis 1 | 2015-09-17 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000118692 | SCV000303858 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000005410 | SCV000478213 | benign | Tuberous sclerosis 1 | 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. |
Illumina Laboratory Services, |
RCV000278906 | SCV000478214 | benign | Isolated focal cortical dysplasia type II | 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. |
Laboratory for Molecular Medicine, |
RCV000118692 | SCV000540593 | 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: 1.5% (96/6614) Finnish chromosomes |
Lupski Lab, |
RCV000278906 | SCV000598610 | uncertain significance | Isolated focal cortical dysplasia type II | 2017-09-01 | criteria provided, single submitter | research | this variant was indentified in an individual with malformations of cortical development |
Athena Diagnostics Inc | RCV000034607 | SCV000844551 | benign | not provided | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000005410 | SCV000883138 | benign | Tuberous sclerosis 1 | 2018-11-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000034607 | SCV001472363 | benign | not provided | 2023-09-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000005410 | SCV002040060 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000129684 | SCV002528856 | benign | Hereditary cancer-predisposing syndrome | 2020-10-21 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000034607 | SCV002774053 | benign | not provided | 2022-06-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034607 | SCV002821976 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TSC1: BS1, BS2 |
Myriad Genetics, |
RCV000005410 | SCV004018700 | benign | Tuberous sclerosis 1 | 2023-07-06 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic. |
Color Diagnostics, |
RCV000005410 | SCV004360817 | benign | Tuberous sclerosis 1 | 2022-09-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005409 | SCV000025591 | uncertain significance | Focal cortical dysplasia of Taylor type 2B | 2009-06-01 | flagged submission | literature only | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034607 | SCV000043509 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Tuberous sclerosis database |
RCV000054851 | SCV000065954 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000118692 | SCV000086410 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Diagnostic Laboratory, |
RCV000034607 | SCV001740581 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000118692 | SCV001808987 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000034607 | SCV001921455 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000118692 | SCV001953033 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118692 | SCV001970901 | benign | not specified | no assertion criteria provided | clinical testing |