Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710573 | SCV000840815 | likely benign | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001398411 | SCV001600181 | likely benign | KBG syndrome | 2018-11-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892572 | SCV004715264 | likely benign | ANKRD11-related condition | 2021-05-19 | 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). |