Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000950839 | SCV001097177 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335080 | SCV001528123 | uncertain significance | Adams-Oliver syndrome 2 | 2018-09-10 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003960616 | SCV004785879 | likely benign | DOCK6-related disorder | 2022-02-15 | 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). |