Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000019399 | SCV003807717 | likely pathogenic | Aromatase deficiency | 2022-07-29 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderated, PM3 supporting, PP3 supporting |
OMIM | RCV000019399 | SCV000039689 | pathogenic | Aromatase deficiency | 1997-07-10 | no assertion criteria provided | literature only |