Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734590 | SCV000862744 | uncertain significance | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133582 | SCV003811253 | uncertain significance | Congenital bile acid synthesis defect 1 | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000734590 | SCV004041966 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | HSD3B7: BP4, BP7 |
Prevention |
RCV003955478 | SCV004773531 | likely benign | HSD3B7-related disorder | 2022-03-03 | 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). |