Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuromuscular Group, |
RCV000656699 | SCV000778824 | likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia | 2018-03-29 | criteria provided, single submitter | clinical testing | The NM_005340.6: c.112T>C variant in HINT1 gene was identified in a Chinese patient with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM), segregated with the disease in her parents, and was absent or rarely reported in large genetic databases. |