ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2493-202T>C

gnomAD frequency: 0.64641  dbSNP: rs4612666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519829 SCV001728768 benign Cryopyrin associated periodic syndrome 2024-01-19 criteria provided, single submitter clinical testing

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