Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001479662 | SCV001683967 | likely benign | Hajdu-Cheney syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003936215 | SCV004753251 | likely benign | NOTCH2-related condition | 2019-05-28 | 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). |