ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)

gnomAD frequency: 0.00004  dbSNP: rs994458759
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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 RCV001226283 SCV001398591 likely benign Cryopyrin associated periodic syndrome 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484230 SCV002784881 uncertain significance 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 2024-06-21 criteria provided, single submitter clinical testing

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