Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734047 | SCV000862158 | uncertain significance | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816806 | SCV002067208 | uncertain significance | not specified | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000734047 | SCV002372189 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965545 | SCV004784069 | likely benign | HNF1B-related disorder | 2019-09-12 | criteria provided, single submitter | 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). |