ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1998C>T (p.Asp666=)

gnomAD frequency: 0.00006  dbSNP: rs745784908
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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 RCV000938480 SCV001084290 likely benign Familial cold autoinflammatory syndrome 3 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505395 SCV002804548 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424482 SCV004145103 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PLCG2: BP4, BP7

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