ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.5116+49T>G

gnomAD frequency: 0.37977  dbSNP: rs5751800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693744 SCV001914601 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788797 SCV002029650 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 RCV003487721 SCV004233160 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 66% of patients studied by a panel of primary immunodeficiencies. Number of patients: 63. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001693744 SCV005276843 benign not provided criteria provided, single submitter not provided

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