ClinVar Miner

Submissions for variant NM_001126049.2(KLLN):c.526C>A (p.Pro176Thr)

dbSNP: rs2132136560
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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 RCV002243576 SCV002512293 uncertain significance Cowden syndrome 4 2021-05-24 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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