ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1362G>C (p.Gly454=)

gnomAD frequency: 0.00002  dbSNP: rs200314422
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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 RCV001446370 SCV001649415 likely benign Cryopyrin associated periodic syndrome 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001655725 SCV001866768 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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