ClinVar Miner

Submissions for variant NM_000878.5(IL2RB):c.389-11G>C

gnomAD frequency: 0.47781  dbSNP: rs228957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518131 SCV001726778 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730789 SCV001980857 benign Immunodeficiency 63 with lymphoproliferation and autoimmunity 2021-08-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487373 SCV004233819 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 69% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001518131 SCV005277236 benign not provided criteria provided, single submitter not provided

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