ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.266-30T>C

gnomAD frequency: 0.44900  dbSNP: rs632899
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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 RCV000253371 SCV000315699 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554706 SCV001775991 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001636825 SCV001852225 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000253371 SCV004233248 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 60% of patients studied by a panel of primary immunodeficiencies. Number of patients: 57. Only high quality variants are reported.

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