Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628570 | SCV000749472 | benign | Beckwith-Wiedemann syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732322 | SCV000860258 | likely benign | not specified | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000628570 | SCV002534281 | likely benign | Beckwith-Wiedemann syndrome | 2021-03-28 | criteria provided, single submitter | curation | |
Prevention |
RCV003892408 | SCV004710031 | likely benign | CDKN1C-related condition | 2023-04-05 | 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). |