Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294209 | SCV000338968 | uncertain significance | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087533 | SCV000763958 | likely benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252083 | SCV002523714 | uncertain significance | See cases | 2020-06-24 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 |
Prevention |
RCV003947903 | SCV004762142 | likely benign | CYBA-related condition | 2023-12-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |