ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2055-8T>C

gnomAD frequency: 0.99057  dbSNP: rs12448130
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519080 SCV001727885 benign Familial cold autoinflammatory syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789412 SCV002031475 benign Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519080 SCV002031486 benign Familial cold autoinflammatory syndrome 3 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001528628 SCV004101275 benign not specified 2023-11-02 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001824980 SCV005253063 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528628 SCV001740657 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528628 SCV001928032 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528628 SCV001951649 benign not specified no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824980 SCV002074726 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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