ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)

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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 RCV003142444 SCV003806870 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-04-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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