Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002649888 | SCV002975485 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003138323 | SCV003806788 | uncertain significance | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2022-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated |