Total submissions: 24
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118693 | SCV000169094 | benign | not specified | 2015-03-04 | 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, |
RCV000118693 | SCV000205282 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Ala943Ala in exon 22 of TSC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 9.1% (399/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs4962081). |
Ambry Genetics | RCV000162946 | SCV000213433 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV000118693 | SCV000227885 | benign | not specified | 2014-07-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000118693 | SCV000303866 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000576543 | SCV000478189 | 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. |
Illumina Laboratory Services, |
RCV000370584 | SCV000478190 | 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. |
Athena Diagnostics | RCV000576543 | SCV000677528 | benign | Tuberous sclerosis 1 | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590200 | SCV000696607 | benign | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | Variant summary: The TSC1 c.2829C>T (p.Ala943Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant was found in 9206/121392 control chromosomes (457 homozygotes), predominantly observed in the Latino, (143 homozygotes) subpopulation at a frequency of 0.1558127 (1804/11578). This frequency greatly exceeds the estimated maximal expected allele frequency of a pathogenic TSC1 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories classified this variant as Benign. Taken together, this variant is classified as Benign. |
ARUP Laboratories, |
RCV000590200 | SCV000884749 | benign | not provided | 2024-11-12 | criteria provided, single submitter | clinical testing | |
Division of Genomic Medicine, |
RCV000576543 | SCV001430708 | likely benign | Tuberous sclerosis 1 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000576543 | SCV001726098 | benign | Tuberous sclerosis 1 | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000576543 | SCV002040356 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000576543 | SCV004015651 | benign | Tuberous sclerosis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000042257 | SCV004360803 | benign | Tuberous sclerosis syndrome | 2019-03-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000042257 | SCV004840454 | benign | Tuberous sclerosis syndrome | 2024-10-02 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000118693 | SCV005088032 | benign | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 20. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000590200 | SCV005225980 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Tuberous sclerosis database |
RCV000042257 | SCV000066044 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000054906 | SCV000083121 | not provided | Malignant tumor of urinary bladder | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000055028 | SCV000083246 | not provided | Lymphangiomyomatosis; Tuberous sclerosis syndrome | no assertion provided | curation | ||
Genetic Services Laboratory, |
RCV000118693 | SCV000153108 | 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. | |
Clinical Genetics, |
RCV000118693 | SCV001917504 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118693 | SCV001974140 | benign | not specified | no assertion criteria provided | clinical testing |