ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1073-15C>T

gnomAD frequency: 0.00005  dbSNP: rs371214101
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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 RCV002218285 SCV002368579 likely benign Familial cold autoinflammatory syndrome 3 2023-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498231 SCV002813112 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-04-13 criteria provided, single submitter clinical testing

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