Submissions for variant NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)

gnomAD frequency: 0.47552  dbSNP: rs11651270

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455985	SCV000539904	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512625	SCV001720072	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001782919	SCV002026790	benign	Respiratory papillomatosis, juvenile recurrent, congenital	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001782918	SCV002026791	benign	Autoinflammation with arthritis and dyskeratosis	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001782917	SCV002026792	benign	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455985	SCV004122984	benign	not specified	2023-11-14	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 64% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001512625	SCV005254855	benign	not provided		criteria provided, single submitter	not provided