Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000009881 | SCV003808017 | likely pathogenic | Cleidocranial dysostosis | 2022-06-20 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 moderated, PM2 moderated, PM6 moderated, PP3 supporting |
OMIM | RCV000009881 | SCV000030102 | pathogenic | Cleidocranial dysostosis | 1997-07-01 | no assertion criteria provided | literature only |