ClinVar Miner

Submissions for variant NM_014009.3(FOXP3):c.543C>T (p.Ser181=) (rs2232367)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515082 SCV000610417 likely benign not provided 2017-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117096 SCV000702663 benign not specified 2016-10-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117096 SCV000151239 likely benign not specified 2013-03-27 criteria provided, single submitter clinical testing
Invitae RCV000550727 SCV000632384 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2017-07-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117096 SCV000539193 benign not specified 2016-03-29 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 in ESP (all):314/10563= 2.97%

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