Total submissions: 25
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118695 | SCV000169082 | benign | not specified | 2013-05-24 | 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. |
Laboratory for Molecular Medicine, |
RCV000118695 | SCV000200859 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Met322Thr in exon 10 of TSC1: This variant is not expected to have clinical sign ificance because it has been identified in 21.9% (967/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs1073123). |
Ambry Genetics | RCV000162954 | SCV000213441 | benign | Hereditary cancer-predisposing syndrome | 2019-05-07 | 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 |
RCV000118695 | SCV000224819 | benign | not specified | 2014-07-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000118695 | SCV000303877 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000355920 | SCV000478247 | benign | Isolated focal cortical dysplasia type II | 2018-01-13 | 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, |
RCV000576638 | SCV000478248 | benign | Tuberous sclerosis 1 | 2018-01-13 | 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, |
RCV000034613 | SCV000605459 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000576638 | SCV000677531 | benign | Tuberous sclerosis 1 | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000034613 | SCV000696604 | benign | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | Variant summary: The TSC1 c.965T>C (p.Met322Thr) variant causes a missense change involving a non-conserved nucleotide with 3/5 in silico tools predicting a benign outcome. This variant was found in the large, broad control population, ExAC, with an allele frequency of 15658/121348 (1104 homozygotes, 1/7, frequency: 0.1290339), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic TSC1 variant of 1/40000 (0.000025), suggesting this variant is likely a benign polymorphism. In addition, multiple reputable databases/clinical laboratories cite the variant as "benign." Therefore, the variant has been classified as Benign. |
Division of Genomic Medicine, |
RCV000576638 | SCV001430714 | benign | Tuberous sclerosis 1 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000576638 | SCV001722510 | benign | Tuberous sclerosis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000576638 | SCV002040479 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000576638 | SCV004015647 | benign | Tuberous sclerosis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000162954 | SCV004228115 | benign | Hereditary cancer-predisposing syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000576638 | SCV004360832 | benign | Tuberous sclerosis 1 | 2022-05-26 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034613 | SCV000043519 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
Tuberous sclerosis database |
RCV000054853 | SCV000066173 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000054992 | SCV000083210 | not provided | Malignant tumor of urinary bladder | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000054997 | SCV000083215 | not provided | Lymphangiomyomatosis; Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000118695 | SCV000086420 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000118695 | SCV000153110 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Center of Medical Genetics and Primary Health Care | RCV001269358 | SCV001448701 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000118695 | SCV001920927 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118695 | SCV001972156 | benign | not specified | no assertion criteria provided | clinical testing |