ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.1005+38_1005+40dup

gnomAD frequency: 0.45949  dbSNP: rs362114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608351 SCV001835083 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788601 SCV002029657 benign Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487507 SCV004233136 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 68% of patients studied by a panel of primary immunodeficiencies. Number of patients: 65. Only high quality variants are reported.

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