Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000974550 | SCV001122380 | likely benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000974550 | SCV001521443 | uncertain significance | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2019-07-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000974550 | SCV003813501 | uncertain significance | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2020-08-04 | criteria provided, single submitter | clinical testing |