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://; 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 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042472 SCV000066263 not provided Tuberous sclerosis syndrome no assertion provided curation

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