ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1743+29T>G

gnomAD frequency: 0.74353  dbSNP: rs7630600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595729 SCV001828876 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789430 SCV002031855 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399406 SCV004122985 benign not specified 2023-11-14 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001595729 SCV005301830 benign not provided criteria provided, single submitter not provided

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