Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001291588 | SCV001480130 | likely pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252357 | SCV002523325 | uncertain significance | See cases | 2019-10-31 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, PP2, PP3 |