Submissions for variant NM_144687.4(NLRP12):c.116G>T (p.Gly39Val)

gnomAD frequency: 0.22387  dbSNP: rs34436714

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248558	SCV000316030	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273265	SCV000414567	benign	Familial cold autoinflammatory syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000248558	SCV000539909	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	RCV001286447	SCV001473018	benign	Familial cold autoinflammatory syndrome 2	2024-11-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001286447	SCV001733115	benign	Familial cold autoinflammatory syndrome 2	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001689937	SCV001913922	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000248558	SCV004102152	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 49% of patients studied by a panel of primary immunodeficiencies. Number of patients: 47. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001689937	SCV005312730	benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV001689937	SCV002074713	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.