Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001755758 | SCV001985419 | uncertain significance | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in apparent homozygous state in two siblings with ataxia with peripheral neuropathy and increased serum AFP in published literature; however the affected siblings were also apparently homozygous for another SETX variant and unaffected siblings were heterozygous for both SETX variants (Asaka et al., 2006); This variant is associated with the following publications: (PMID: 23566282, 23129421, 16717225) |
Inherited Neuropathy Consortium | RCV000790202 | SCV000929594 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |