ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.582G>A (p.Thr194=)

dbSNP: rs774719700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244181 SCV002512540 uncertain significance Immunodeficiency 51 2021-03-30 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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