ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-9C>T

gnomAD frequency: 0.00094  dbSNP: rs45515893
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125700 SCV000169164 benign not specified 2013-04-02 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.
Invitae RCV000227417 SCV000285448 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000125700 SCV000305242 benign not specified 2016-03-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043120 SCV000395677 benign Tuberous sclerosis syndrome 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, Mass General Brigham Personalized Medicine RCV000125700 SCV000711366 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5161-9C>T in intron 40 of TSC2: This variant is not expected to have clinical si gnificance because it has been identified in 4.6% (9/194) of Han Chinese chromos omes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.ni h.gov/projects/SNP; dbSNP rs45515893).
Athena Diagnostics RCV000125700 SCV001880091 benign not specified 2020-11-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000227417 SCV002039919 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000125700 SCV002070020 benign not specified 2021-06-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000125700 SCV002774086 benign not specified 2020-11-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114224 SCV003799666 benign not provided 2022-11-29 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000227417 SCV004016105 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125700 SCV004100047 benign not specified 2023-09-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000227417 SCV004360942 benign Tuberous sclerosis 2 2022-09-21 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043120 SCV000066919 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125700 SCV001973657 benign not specified no assertion criteria provided clinical testing

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