ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1887C>T (p.Phe629=)

gnomAD frequency: 0.00001  dbSNP: rs1572173453
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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 RCV001392225 SCV001593866 likely benign Cryopyrin associated periodic syndrome 2022-07-26 criteria provided, single submitter clinical testing

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