Submissions for variant NM_003265.3(TLR3):c.1377C>T (p.Phe459=)

gnomAD frequency: 0.27189  dbSNP: rs3775290

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454544	SCV000540534	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514931	SCV001722898	benign	Herpes simplex encephalitis, susceptibility to, 1	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001692126	SCV001907519	benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454544	SCV004233336	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 53% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001692126	SCV005306586	benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV001692126	SCV002074801	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.