Submissions for variant NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000284726	SCV000402428	likely benign	Renal cysts and diabetes syndrome	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000284726	SCV000925991	likely benign	Renal cysts and diabetes syndrome	2019-07-06	criteria provided, single submitter	literature only
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056574	SCV002407761	benign	not provided	2023-08-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002056574	SCV002498270	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	HNF1B: BS1, BS2
GeneDx	RCV002056574	SCV002504187	likely benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002504095	SCV002801114	likely benign	Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma	2022-02-04	criteria provided, single submitter	clinical testing