ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.277+83_277+85del

gnomAD frequency: 0.33560  dbSNP: rs368835809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986584 SCV001135609 benign Familial cold autoinflammatory syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003489989 SCV004234003 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 27. Only high quality variants are reported.

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