Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000545527 | SCV000629461 | likely benign | Spastic paraplegia | 2023-04-13 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848921 | SCV002105015 | uncertain significance | Hereditary spastic paraplegia | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV005000138 | SCV005622116 | uncertain significance | not provided | 2024-09-27 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein. |
Natera, |
RCV001834757 | SCV002086717 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-10-09 | no assertion criteria provided | clinical testing |