Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995038 | SCV001148945 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001419225 | SCV001621472 | likely benign | Spastic paraplegia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578936 | SCV001806298 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000995038 | SCV001880430 | uncertain significance | not provided | 2021-05-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549896 | SCV003739010 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.5711C>G (p.T1904R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to G substitution at nucleotide position 5711, causing the threonine (T) at amino acid position 1904 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |