ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2577C>T (p.Asn859=)

gnomAD frequency: 0.00006  dbSNP: rs747043855
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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 RCV001468056 SCV001672093 likely benign Familial cold autoinflammatory syndrome 3 2020-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489256 SCV002801827 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-02-17 criteria provided, single submitter clinical testing

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