ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1629C>T (p.Asn543=)

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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 RCV002599430 SCV003497381 likely benign Cryopyrin associated periodic syndrome 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540570 SCV004772105 likely benign NLRP3-related disorder 2019-07-26 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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