Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176689 | SCV000228385 | uncertain significance | not provided | 2014-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000638610 | SCV000760147 | likely benign | Hajdu-Cheney syndrome | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955050 | SCV004780327 | likely benign | NOTCH2-related condition | 2022-09-23 | 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). |