ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.345-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004776353 SCV005387672 pathogenic Renal cysts and diabetes syndrome 2024-09-19 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PS1_SUP,PM2_SUP,PP4

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