ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=)

gnomAD frequency: 0.00020  dbSNP: rs138089800
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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 RCV000557127 SCV000646270 likely benign Cryopyrin associated periodic syndrome 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497159 SCV002805950 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 2021-09-22 criteria provided, single submitter clinical testing

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