ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030537 SCV000053208 likely pathogenic Familial hypoplastic, glomerulocystic kidney 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787111 SCV000926040 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only

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