Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000292371 | SCV000342575 | likely benign | not specified | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001509626 | SCV001716449 | benign | Hajdu-Cheney syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683164 | SCV001899225 | benign | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940054 | SCV004753818 | likely benign | NOTCH2-related condition | 2021-03-29 | 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). |