ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3611-10G>A

gnomAD frequency: 0.00004  dbSNP: rs372045362
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125675 SCV000169137 benign not specified 2014-05-02 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 RCV000233141 SCV000285358 benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000055465 SCV000395630 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.
Athena Diagnostics RCV000125675 SCV001880087 benign not specified 2021-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000233141 SCV002039347 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256037 SCV002533430 benign Hereditary cancer-predisposing syndrome 2021-04-21 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002262609 SCV002545715 benign not provided 2024-04-01 criteria provided, single submitter clinical testing TSC2: BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000233141 SCV004016115 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000233141 SCV004018706 benign Tuberous sclerosis 2 2023-07-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002262609 SCV004221439 benign not provided 2021-03-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000055465 SCV004815791 benign Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055465 SCV000083686 not provided Tuberous sclerosis syndrome no assertion provided curation

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