ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2011A>G (p.Ile671Val)

gnomAD frequency: 0.00157  dbSNP: rs150833842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810999 SCV000604849 benign not provided 2023-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082160 SCV000771885 benign Familial cold autoinflammatory syndrome 3 2025-02-03 criteria provided, single submitter clinical testing

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