ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.115+21C>G

gnomAD frequency: 0.65337  dbSNP: rs2306571
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001682240 SCV001903427 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789529 SCV002031850 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 RCV003401608 SCV004102366 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 93% of patients studied by a panel of primary immunodeficiencies. Number of patients: 89. Only high quality variants are reported.
Labcorp Genetics (formerly Invitae), Labcorp RCV001789529 SCV004449599 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2023-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682240 SCV005299004 benign not provided criteria provided, single submitter not provided

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