Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997923 | SCV001153694 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SOX10: BS1, BS2 |
Prevention |
RCV003952695 | SCV004769678 | likely benign | SOX10-related condition | 2022-05-16 | 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). |
U955 Equipe 11, |
RCV000144843 | SCV000108700 | likely pathogenic | Hirschsprung disease, susceptibility to, 1 | 2013-12-11 | no assertion criteria provided | in vitro | Regulation of SOX10 expression |