Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuromuscular Group, |
RCV000656698 | SCV000778825 | likely pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia | 2018-03-29 | criteria provided, single submitter | clinical testing | The NM_005340.6: c.289G>A variant in HINT1 was identified in a Chinese patient with autosomal recessive axonal neuropathy with neuromyotonia, segregated with the disease in his parents, and was absent from large genetic databases. |