Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626958 | SCV000747661 | uncertain significance | Oligohydramnios; Premature birth; Small for gestational age; Birth length less than 3rd percentile; Motor polyneuropathy; Interosseus muscle atrophy; Mixed demyelinating and axonal polyneuropathy; Progressive pes cavus | 2017-01-01 | criteria provided, single submitter | clinical testing |