ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1959C>T (p.Arg653=)

gnomAD frequency: 0.00035  dbSNP: rs117835631
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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 RCV000968866 SCV001116349 benign Familial cold autoinflammatory syndrome 3 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002066410 SCV002497944 benign not provided 2023-10-01 criteria provided, single submitter clinical testing PLCG2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002489402 SCV002802300 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-08-24 criteria provided, single submitter clinical testing

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