Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV004577782 | SCV000364005 | uncertain significance | Hearing loss, autosomal recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000380623 | SCV000364006 | uncertain significance | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV004529548 | SCV000364007 | uncertain significance | CDH23-related disorder | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000388913 | SCV000483191 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292556 | SCV000483192 | likely benign | Combined PSAP deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000349779 | SCV000483193 | likely benign | Metachromatic leukodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000407274 | SCV000483194 | likely benign | Atypical Gaucher Disease | 2016-06-14 | criteria provided, single submitter | clinical testing |