ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.401-29T>C

gnomAD frequency: 0.95824  dbSNP: rs4940876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243695 SCV000315700 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001541646 SCV001759668 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554705 SCV001775990 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000243695 SCV004232999 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.

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