ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.266-104C>T

gnomAD frequency: 0.43621  dbSNP: rs650033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990113 SCV001140915 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990113 SCV001775993 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001644874 SCV001857343 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003489992 SCV004233608 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 33% of patients studied by a panel of primary immunodeficiencies. Number of patients: 31. Only high quality variants are reported.

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