ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2236-14C>T

dbSNP: rs12446127
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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 RCV002152457 SCV002417631 benign Familial cold autoinflammatory syndrome 3 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480967 SCV002794699 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-01-08 criteria provided, single submitter clinical testing

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