ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2584G>C (p.Glu862Gln)

gnomAD frequency: 0.00003  dbSNP: rs202149902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262157 SCV002542624 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095950 SCV003488533 likely benign Cryopyrin associated periodic syndrome 2023-07-07 criteria provided, single submitter clinical testing

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