Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000259633 | SCV000343416 | uncertain significance | not provided | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003522955 | SCV004269326 | likely benign | Hajdu-Cheney syndrome | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967785 | SCV004781072 | likely benign | NOTCH2-related condition | 2021-12-28 | 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). |