Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000350176 | SCV000457116 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000403059 | SCV000484133 | likely benign | Oculocutaneous albinism | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000350176 | SCV001769078 | benign | Alpha-methylacyl-CoA racemase deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001549021 | SCV001769079 | benign | Congenital bile acid synthesis defect 4 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001598662 | SCV001827795 | likely benign | not provided | 2018-06-23 | criteria provided, single submitter | clinical testing |