ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.480-15C>T

gnomAD frequency: 0.00021  dbSNP: rs368147709
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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 RCV002180186 SCV002349285 likely benign Familial cold autoinflammatory syndrome 3 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498159 SCV002805877 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-08-30 criteria provided, single submitter clinical testing

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