ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)

gnomAD frequency: 0.00020  dbSNP: rs104895398
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436812 SCV001639656 likely benign Cryopyrin associated periodic syndrome 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001682793 SCV001899358 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262691 SCV002542599 uncertain significance Autoinflammatory syndrome 2019-08-01 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084189 SCV000116322 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701747 SCV001927158 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001682793 SCV001970761 likely benign not provided no assertion criteria provided clinical testing

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