Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001496531 | SCV001701230 | likely benign | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003416364 | SCV004138371 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | NAGLU: BP4, BP7 |