Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202910 | SCV000257672 | benign | Tuberous sclerosis 1 | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586176 | SCV000696605 | benign | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | Variant summary: The TSC1 c.2626-5_2626-4dupTT variant involves the duplication of two intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 12290/80186 control chromosomes (278 homozygotes) at a frequency of 0.1532687, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic TSC1 variant (0.000025), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic lab/reputable database classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Labcorp Genetics |
RCV000202910 | SCV001721434 | benign | Tuberous sclerosis 1 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586176 | SCV001901743 | benign | not provided | 2019-08-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000202910 | SCV002040367 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256402 | SCV002528878 | benign | Hereditary cancer-predisposing syndrome | 2019-12-09 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256402 | SCV002745673 | benign | Hereditary cancer-predisposing syndrome | 2020-07-06 | 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. |
Fulgent Genetics, |
RCV002506398 | SCV002801215 | benign | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000202910 | SCV004360809 | benign | Tuberous sclerosis 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001796128 | SCV002034190 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001796128 | SCV002035528 | benign | not specified | no assertion criteria provided | clinical testing |