ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.638A>G (p.His213Arg)

gnomAD frequency: 0.00025  dbSNP: rs150396172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520553 SCV000616922 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Also known as p.(H213R); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32082075, 25979514)
Labcorp Genetics (formerly Invitae), Labcorp RCV001211981 SCV001383550 likely benign Cryopyrin associated periodic syndrome 2024-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000520553 SCV001747515 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481693 SCV002787648 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 2022-05-12 criteria provided, single submitter clinical testing

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