ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.3396G>A (p.Leu1132=)

gnomAD frequency: 0.00011  dbSNP: rs201475640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915500 SCV001060710 likely benign Familial cold autoinflammatory syndrome 3 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502765 SCV002810673 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-09-01 criteria provided, single submitter clinical testing

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