Submissions for variant NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu)

gnomAD frequency: 0.12363  dbSNP: rs34562254

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000312789	SCV000400911	benign	Common Variable Immune Deficiency, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455556	SCV000540556	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001540627	SCV000605397	benign	not provided	2019-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520146	SCV001729185	benign	Immunodeficiency, common variable, 2	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001540627	SCV001758529	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28728263)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455556	SCV004233660	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 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001540627	SCV005248021	benign	not provided		criteria provided, single submitter	not provided