ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1899C>T (p.Tyr633=)

dbSNP: rs200089426
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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 RCV001436831 SCV001639675 likely benign Cryopyrin associated periodic syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543520 SCV004779871 likely benign NLRP3-related disorder 2019-09-09 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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