ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1194-16C>A

gnomAD frequency: 0.00003  dbSNP: rs778184999
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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 RCV002096418 SCV002394701 likely benign Familial cold autoinflammatory syndrome 3 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499971 SCV002808086 likely benign Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-12-02 criteria provided, single submitter clinical testing

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