ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.618G>A (p.Leu206=)

dbSNP: rs201463849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426880 SCV000530839 likely benign not specified 2016-08-10 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 RCV002522444 SCV003504978 likely benign Cryopyrin associated periodic syndrome 2021-12-19 criteria provided, single submitter clinical testing

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