Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633528 | SCV000754772 | likely benign | Smith-Lemli-Opitz syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003403449 | SCV004137205 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | DHCR7: BP4, BP7 |
Prevention |
RCV003892431 | SCV004712348 | likely benign | DHCR7-related disorder | 2021-09-30 | 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). |
Natera, |
RCV000633528 | SCV002093074 | likely benign | Smith-Lemli-Opitz syndrome | 2020-01-20 | no assertion criteria provided | clinical testing |