Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UF de génétique clinique, |
RCV001270453 | SCV001450741 | likely pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | no assertion criteria provided | clinical testing |