Submissions for variant NM_133459.4(CCBE1):c.775+12A>G

gnomAD frequency: 0.59779  dbSNP: rs1893788

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253276	SCV000315702	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406768	SCV000409964	benign	Hennekam lymphangiectasia-lymphedema syndrome 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253276	SCV000538600	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: 53% of total chromosomes in ExAC
Invitae	RCV001511765	SCV001719061	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000406768	SCV001775861	benign	Hennekam lymphangiectasia-lymphedema syndrome 1	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001511765	SCV001916749	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000253276	SCV004233051	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 77% of patients studied by a panel of primary immunodeficiencies. Number of patients: 73. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000406768	SCV000733800	benign	Hennekam lymphangiectasia-lymphedema syndrome 1		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253276	SCV001919853	benign	not specified		no assertion criteria provided	clinical testing