ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.1137G>A (p.Lys379=)

gnomAD frequency: 0.15008  dbSNP: rs879576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399063 SCV000437166 benign Familial Candidiasis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513308 SCV001720902 benign Immunodeficiency 51 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488560 SCV004233739 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 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004713726 SCV005278190 benign not provided criteria provided, single submitter not provided

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