ClinVar Miner

Submissions for variant NM_033004.4(NLRP1):c.464T>A (p.Leu155His)

gnomAD frequency: 0.33261  dbSNP: rs12150220
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510771 SCV001717891 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781177 SCV002026793 benign Respiratory papillomatosis, juvenile recurrent, congenital 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781176 SCV002026794 benign Autoinflammation with arthritis and dyskeratosis 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781175 SCV002026795 benign Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003390641 SCV004102005 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported.
OMIM RCV000004380 SCV000024552 risk factor Vitiligo-associated multiple autoimmune disease susceptibility 1 2007-03-22 no assertion criteria provided literature only

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