Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118699 | SCV000153114 | benign | not specified | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162956 | SCV000213444 | benign | Hereditary cancer-predisposing syndrome | 2014-10-30 | 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. |
Invitae | RCV001081735 | SCV000261873 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000055387 | SCV000395582 | benign | Tuberous sclerosis syndrome | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589685 | SCV000697460 | benign | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | Variant summary: The TSC2 c.1543C>T (p.Leu515Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging 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 293/121028 control chromosomes (3 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0263918 (274/10382). This frequency is about 384 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), indicating this is a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Athena Diagnostics Inc | RCV000589685 | SCV000844559 | benign | not provided | 2017-09-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000589685 | SCV001159970 | benign | not provided | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589685 | SCV001849408 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081735 | SCV002041350 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000118699 | SCV002774061 | benign | not specified | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496739 | SCV002807364 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001081735 | SCV004016122 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055387 | SCV000083608 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Clinical Genetics, |
RCV000118699 | SCV001921592 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118699 | SCV001970863 | benign | not specified | no assertion criteria provided | clinical testing |