ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2492+8G>A

gnomAD frequency: 0.00001  dbSNP: rs201453934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235902 SCV000293296 likely benign not specified 2015-10-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057253 SCV002382748 likely benign Cryopyrin associated periodic syndrome 2023-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262857 SCV002542622 likely benign Autoinflammatory syndrome 2021-11-18 criteria provided, single submitter clinical testing

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