ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2784C>T (p.Ile928=)

gnomAD frequency: 0.00003  dbSNP: rs769310647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116167 SCV002405986 benign Familial cold autoinflammatory syndrome 3 2024-01-03 criteria provided, single submitter clinical testing

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