Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410152 | SCV000486130 | likely pathogenic | Metachromatic leukodystrophy | 2016-04-05 | criteria provided, single submitter | clinical testing | |
Molecular Genetic Laboratory, |
RCV000410152 | SCV003925777 | uncertain significance | Metachromatic leukodystrophy | 2023-05-24 | no assertion criteria provided | clinical testing | This variant change has been reported by a single submitter as a likely pathogenic (Variation ID: 370738) in Metachromatic leukodystrophy (PMID: 26462614). We reported this variant in a homozygous state, as an incidental finding, in a lady with a history of epilepsy. Moreover, this lady has a daughter with epilepsy, and she is heterozygous for this variant. This raised a suspension on the clinical significance of this variant. |