Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000000213 | SCV002022572 | likely pathogenic | Frank-Ter Haar syndrome | 2021-10-27 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000000213 | SCV003807282 | likely pathogenic | Frank-Ter Haar syndrome | 2022-03-23 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM2 moderated, PM3 moderated, PP3 supporting, PP4 |
OMIM | RCV000000213 | SCV000020356 | pathogenic | Frank-Ter Haar syndrome | 2010-02-12 | no assertion criteria provided | literature only |