Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034153 | SCV001197481 | likely benign | Niemann-Pick disease, type C1 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001256104 | SCV001432891 | uncertain significance | Seizure; Intellectual disability | 2020-05-20 | criteria provided, single submitter | clinical testing |