Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000360164 | SCV000407367 | uncertain significance | Sanfilippo syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800656 | SCV002045475 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001800656 | SCV002395194 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2024-01-04 | criteria provided, single submitter | clinical testing |