Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176654 | SCV000228345 | likely benign | not specified | 2015-05-08 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000329160 | SCV000458278 | uncertain significance | Hermansky-Pudlak syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000176654 | SCV000593216 | likely benign | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081656 | SCV000639575 | benign | Hermansky-Pudlak syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000528392 | SCV001154428 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | AP3B1: BP4, BS2 |
Genome Diagnostics Laboratory, |
RCV002262773 | SCV002542956 | likely benign | Autoinflammatory syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing |