ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.*26G>A (rs13332015)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253551 SCV000305135 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042924 SCV000395690 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.
Tuberous sclerosis database (TSC2) RCV000042924 SCV000066721 not provided Tuberous sclerosis syndrome no assertion provided curation
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058883 SCV000090403 not provided Tuberous sclerosis 2 no assertion provided not provided

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