ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2457A>T (p.Gly819=)

gnomAD frequency: 0.00059  dbSNP: rs202034848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615016 SCV000715730 likely benign not specified 2017-02-09 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 RCV003758876 SCV004511334 benign Cryopyrin associated periodic syndrome 2023-06-16 criteria provided, single submitter clinical testing

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