Submissions for variant NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV001124747	SCV000925995	pathogenic	Renal cysts and diabetes syndrome	2019-07-06	criteria provided, single submitter	literature only
Illumina Laboratory Services, Illumina	RCV001124747	SCV001283734	uncertain significance	Renal cysts and diabetes syndrome	2017-04-27	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153303	SCV003843810	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000013476	SCV000033723	pathogenic	Type 2 diabetes mellitus	2002-08-01	no assertion criteria provided	literature only