ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)

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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 RCV000173138 SCV000224227 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369522 SCV000402435 likely benign Familial hypoplastic, glomerulocystic kidney 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
SIB Swiss Institute of Bioinformatics RCV000369522 SCV000803619 uncertain significance Familial hypoplastic, glomerulocystic kidney 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Renal cysts and diabetes syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder (PMID:23539225). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787245 SCV000926175 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Athena Diagnostics Inc RCV000993276 SCV001146113 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing

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