Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030528 | SCV000053199 | benign | Renal cysts and diabetes syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Benign. |
Eurofins Ntd Llc |
RCV000175611 | SCV000227129 | benign | not specified | 2014-07-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000993278 | SCV001146115 | benign | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000993278 | SCV001942911 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000993278 | SCV002428753 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464086 | SCV002605447 | benign | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia.However no sufficient evidence is found to ascertain the role of this particular variant rs59527848, yet. | |
KCCC/NGS Laboratory, |
RCV003315521 | SCV004015769 | benign | Nonpapillary renal cell carcinoma | 2023-07-07 | criteria provided, single submitter | clinical testing |