Submissions for variant NM_000211.5(ITGB2):c.24G>T (p.Leu8=)

gnomAD frequency: 0.20978  dbSNP: rs11088969

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000087115	SCV000436340	benign	Leukocyte adhesion deficiency 1	2018-01-13	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.
Invitae	RCV000087115	SCV001720469	benign	Leukocyte adhesion deficiency 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001650938	SCV001867513	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV003488388	SCV004233597	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 34% of patients studied by a panel of primary immunodeficiencies. Number of patients: 32. Only high quality variants are reported.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000087115	SCV000119976	untested	Leukocyte adhesion deficiency 1		no assertion provided	not provided	Converted during submission to not provided.
GenomeConnect, ClinGen	RCV001650938	SCV002074682	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.