ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.775+82A>G

dbSNP: rs3809990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554597 SCV001775860 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694117 SCV001914293 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487482 SCV004232935 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 91% of patients studied by a panel of primary immunodeficiencies. Number of patients: 86. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001694117 SCV005309176 benign not provided criteria provided, single submitter not provided

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