Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626492 | SCV000747193 | pathogenic | Hearing impairment; Steppage gait; Peripheral axonal neuropathy; Foot dorsiflexor weakness | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000626513 | SCV000747214 | pathogenic | Myopathy; Global developmental delay; Clinodactyly; Attention deficit hyperactivity disorder | 2017-01-01 | criteria provided, single submitter | clinical testing |