ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2545+26G>A (rs45517242)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205383 SCV000262026 benign Tuberous sclerosis 2 2016-03-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245131 SCV000305176 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440515 SCV000511204 benign not provided 2016-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000245131 SCV000540602 likely 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: ExAC: 0.4% (277/64542) European chromosomes
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245131 SCV000707188 benign not specified 2017-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000245131 SCV000728488 likely benign not specified 2018-01-31 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.
Tuberous sclerosis database (TSC2) RCV000042888 SCV000066684 not provided Tuberous sclerosis syndrome no assertion provided curation

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