ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1156G>A (p.Val386Met)

gnomAD frequency: 0.00034  dbSNP: rs769180169
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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 RCV002190563 SCV002354961 benign Familial cold autoinflammatory syndrome 3 2021-12-28 criteria provided, single submitter clinical testing

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