Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518243 | SCV000614966 | uncertain significance | not specified | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000803901 | SCV000943789 | likely benign | Spastic paraplegia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001783017 | SCV002026516 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001783017 | SCV002086244 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2019-11-11 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003960224 | SCV004770551 | uncertain significance | SACS-related disorder | 2024-01-05 | no assertion criteria provided | clinical testing | The SACS c.6030G>T variant is predicted to result in the amino acid substitution p.Lys2010Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |