ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2392-35T>C (rs11243931)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252255 SCV000703751 benign not specified 2016-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000252255 SCV000540592 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with tuberous sclerosis
PreventionGenetics RCV000252255 SCV000303861 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042199 SCV000065985 not provided Tuberous sclerosis syndrome no assertion provided curation

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