ClinVar Miner

Submissions for variant NM_003265.2(TLR3):c.1234C>T (p.Leu412Phe) (rs3775291)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455666 SCV000540533 benign not specified 2016-03-28 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: MAF. Associated with susceptibility to infections, rheumatoid arthritis. Some functional evidence to show reduced IFN and TNF secretion in response to stimulation. This may be a risk allele, but unlikely to cause disease on its own
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000610503 SCV000743658 likely benign Herpes simplex encephalitis 2 2016-11-25 criteria provided, single submitter clinical testing
OMIM RCV000034357 SCV000058339 protective Human immunodeficiency virus type 1, susceptibility to 2018-08-08 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610503 SCV000734332 benign Herpes simplex encephalitis 2 no assertion criteria provided clinical testing

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