Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000318641 | SCV000342235 | uncertain significance | not provided | 2016-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003633495 | SCV004521751 | likely benign | Hajdu-Cheney syndrome | 2022-11-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977798 | SCV004793870 | likely benign | NOTCH2-related condition | 2019-03-05 | 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). |