ClinVar Miner

Submissions for variant NM_153218.4(LACC1):c.760A>G (p.Ile254Val)

gnomAD frequency: 0.26736  dbSNP: rs3764147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731088 SCV001981205 benign Juvenile arthritis due to defect in LACC1 2021-08-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487773 SCV004233923 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 45% of patients studied by a panel of primary immunodeficiencies. Number of patients: 40. Only high quality variants are reported.
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta RCV002291764 SCV002583889 uncertain risk allele Leprosy, susceptibility to, 1 2022-06-10 no assertion criteria provided case-control

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