ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731270 SCV000859066 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787105 SCV000926034 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
CeGaT Praxis fuer Humangenetik Tuebingen RCV000731270 SCV001151275 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001125735 SCV001284837 benign Familial hypoplastic, glomerulocystic kidney 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Gharavi Laboratory,Columbia University RCV000731270 SCV000920748 likely benign not provided 2018-09-16 no assertion criteria provided research

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