ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.4053-15G>C

gnomAD frequency: 0.48174  dbSNP: rs3852979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598913 SCV001827510 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788595 SCV002029651 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 RCV003487499 SCV004233084 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 74% of patients studied by a panel of primary immunodeficiencies. Number of patients: 70. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001598913 SCV005276850 benign not provided criteria provided, single submitter not provided

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