ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.161T>C (p.Val54Ala)

gnomAD frequency: 0.00220  dbSNP: rs138985119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525500 SCV000656235 likely benign Candidiasis, familial, 9 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531559 SCV001746753 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing IL17RC: BP4
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001531559 SCV001928889 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531559 SCV001971931 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003915643 SCV004734846 likely benign IL17RC-related disorder 2024-01-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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