ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2913C>T (p.Pro971=)

gnomAD frequency: 0.00013  dbSNP: rs377752384
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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 RCV001417060 SCV001619255 likely benign Familial cold autoinflammatory syndrome 3 2022-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487988 SCV002799954 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-09-29 criteria provided, single submitter clinical testing

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