ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)

gnomAD frequency: 0.00061  dbSNP: rs117077093
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953363 SCV001099932 likely benign Familial cold autoinflammatory syndrome 3 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529983 SCV003917846 benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLCG2: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529983 SCV001744406 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529983 SCV001964235 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970751 SCV004782789 likely benign PLCG2-related disorder 2023-02-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.