Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696534 | SCV000825098 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003987670 | SCV004804778 | uncertain significance | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2024-03-17 | criteria provided, single submitter | research |