Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607755 | SCV000726085 | likely benign | not specified | 2018-01-12 | 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. |
Invitae | RCV000945858 | SCV001091921 | likely benign | Smith-Lemli-Opitz syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905632 | SCV004725166 | likely benign | DHCR7-related disorder | 2022-08-30 | 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, |
RCV000945858 | SCV001458002 | likely benign | Smith-Lemli-Opitz syndrome | 2020-04-16 | no assertion criteria provided | clinical testing |