Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000259735 | SCV000364127 | likely benign | Combined saposin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000319640 | SCV000364128 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000374187 | SCV000364129 | likely benign | Metachromatic leukodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000284433 | SCV000364130 | likely benign | Atypical Gaucher Disease | 2016-06-14 | criteria provided, single submitter | clinical testing |