ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.692+25C>T

gnomAD frequency: 0.28270  dbSNP: rs11865395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001642000 SCV001860922 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789471 SCV002031386 benign Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789470 SCV002031397 benign Familial cold autoinflammatory syndrome 3 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401550 SCV004102308 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 36% of patients studied by a panel of primary immunodeficiencies. Number of patients: 35. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001642000 SCV005250107 benign not provided criteria provided, single submitter not provided

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