ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-12C>T (rs13331451)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152158 SCV000200861 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2546-12C>T in intron 22 of TSC2: This variant is not expected to have clinical s ignificance because it has been identified in 47.9% (2106/4396) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs13331451).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152158 SCV000228021 benign not specified 2014-10-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152158 SCV000305178 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042472 SCV000395613 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) RCV000042472 SCV000066263 not provided Tuberous sclerosis syndrome no assertion provided curation

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