Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001473219 | SCV001677364 | likely benign | Beckwith-Wiedemann syndrome | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938845 | SCV004763104 | likely benign | CDKN1C-related disorder | 2022-03-11 | no assertion criteria provided | 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). |