Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV002474417 | SCV002771006 | uncertain significance | not provided | 2024-10-29 | 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 predict this amino acid change may be damaging to the protein. |
Labcorp Genetics |
RCV002571524 | SCV003473441 | likely benign | Spastic paraplegia | 2024-03-23 | criteria provided, single submitter | clinical testing |