Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614639 | SCV000720410 | likely benign | not specified | 2017-06-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Illumina Laboratory Services, |
RCV001137029 | SCV001296917 | likely benign | Familial hyperinsulinism | 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). 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. |
Illumina Laboratory Services, |
RCV001139276 | SCV001299402 | likely benign | Maturity-onset diabetes of the young type 1 | 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). 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. |
Athena Diagnostics | RCV000614639 | SCV001475906 | benign | not specified | 2019-11-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002063877 | SCV002404432 | benign | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395578 | SCV002695977 | likely benign | Maturity onset diabetes mellitus in young | 2017-04-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Clinical Genomics, |
RCV002395578 | SCV002754471 | benign | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Potent mutations in HNF4A are associated with poor insulin secretion in response to hyperglycemia. Associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. However, more evidence is required to ascertain the role of this particular variant rs145845882 in MODY, yet. | |
ARUP Laboratories, |
RCV002063877 | SCV004564202 | benign | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927985 | SCV004752445 | likely benign | HNF4A-related disorder | 2019-07-02 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |