ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.648+12C>G

gnomAD frequency: 0.00027  dbSNP: rs145838332
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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 RCV002080829 SCV002377398 benign Familial cold autoinflammatory syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498289 SCV002811421 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-10-21 criteria provided, single submitter clinical testing

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