ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.171C>T (p.Ile57=)

gnomAD frequency: 0.00003  dbSNP: rs773673175
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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 RCV000907258 SCV001051950 likely benign Cryopyrin associated periodic syndrome 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001683691 SCV001901525 likely benign not provided 2020-01-07 criteria provided, single submitter clinical testing

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