ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=)

gnomAD frequency: 0.00006  dbSNP: rs145787821
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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 RCV001418430 SCV001620659 likely benign Cryopyrin associated periodic syndrome 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001539421 SCV001757199 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499898 SCV002812992 likely benign Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 2022-02-15 criteria provided, single submitter clinical testing

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