Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000530318 | SCV000629483 | likely benign | Spastic paraplegia | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525291 | SCV003530573 | uncertain significance | Inborn genetic diseases | 2021-04-28 | criteria provided, single submitter | clinical testing | The c.8693G>A (p.R2898H) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 8693, causing the arginine (R) at amino acid position 2898 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274928 | SCV001459489 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-09-16 | no assertion criteria provided | clinical testing |