ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=)

gnomAD frequency: 0.00007  dbSNP: rs199649583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973953 SCV001121748 likely benign Cryopyrin associated periodic syndrome 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001692329 SCV001914334 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264120 SCV002542628 likely benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing

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