Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000970163 | SCV001117727 | likely benign | Holoprosencephaly 3 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811552 | SCV002049976 | likely benign | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553477 | SCV004772809 | likely benign | SHH-related disorder | 2019-07-24 | 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). |