ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.785G>C (p.Arg262Pro) (rs180177442)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788842 SCV000928108 likely pathogenic not provided 2018-12-11 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084230 SCV000116366 not provided Familial cold urticaria no assertion provided not provided
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001028056 SCV001190830 likely pathogenic Chronic infantile neurological, cutaneous and articular syndrome 2020-02-05 no assertion criteria provided clinical testing

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