ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.920A>G (p.Gln307Arg)

gnomAD frequency: 0.99558  dbSNP: rs279549
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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 RCV001511384 SCV001718625 benign Candidiasis, familial, 9 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511384 SCV001980713 benign Candidiasis, familial, 9 2021-08-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003490274 SCV004233077 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004709041 SCV005238672 benign not provided criteria provided, single submitter not provided

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