ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1934+8T>G

gnomAD frequency: 0.00001  dbSNP: rs780081424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470303 SCV001674398 likely benign Familial cold autoinflammatory syndrome 3 2023-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488274 SCV002800557 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900622 SCV004710037 likely benign PLCG2-related disorder 2021-12-16 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).

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