ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.533G>A (p.Ser178Asn)

gnomAD frequency: 0.00015  dbSNP: rs200981336
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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 RCV000700572 SCV000829331 benign Familial cold autoinflammatory syndrome 3 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892559 SCV004715267 likely benign PLCG2-related disorder 2023-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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