ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1935-4G>A

gnomAD frequency: 0.00002  dbSNP: rs762488045
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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 RCV001395910 SCV001597629 likely benign Familial cold autoinflammatory syndrome 3 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499835 SCV002805265 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-04-18 criteria provided, single submitter clinical testing

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