ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030537 SCV000053208 likely pathogenic Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000030537 SCV000926040 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844804 SCV001877064 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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