Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000449537 | SCV000537710 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2016-09-14 | criteria provided, single submitter | clinical testing | This homozygous variant in the SACS gene was found in a young girl. The mother and the father are both heterozygous for this variant. |