ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.-119del

dbSNP: rs754470733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV005243099 SCV005890195 uncertain significance not provided 2025-01-01 criteria provided, single submitter clinical testing HNF1A: PM2
OMIM RCV000016073 SCV000036341 pathogenic Maturity-onset diabetes of the young type 3 2000-01-01 no assertion criteria provided literature only

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