Submissions for variant NM_000211.5(ITGB2):c.1101C>A (p.Val367=)

gnomAD frequency: 0.23426  dbSNP: rs2230529

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000087108	SCV000436306	benign	Leukocyte adhesion deficiency 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000456058	SCV000539403	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: Frequency
Invitae	RCV000087108	SCV001720467	benign	Leukocyte adhesion deficiency 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001675612	SCV001895143	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000087108	SCV001980763	benign	Leukocyte adhesion deficiency 1	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000456058	SCV004233493	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 41% of patients studied by a panel of primary immunodeficiencies. Number of patients: 39. Only high quality variants are reported.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000087108	SCV000119969	untested	Leukocyte adhesion deficiency 1		no assertion provided	not provided	Converted during submission to not provided.