Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001359227 | SCV001555090 | likely benign | Spastic paraplegia | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034523 | SCV004944905 | uncertain significance | Inborn genetic diseases | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.10790A>G (p.Q3597R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 10790, causing the glutamine (Q) at amino acid position 3597 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001825992 | SCV002086168 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-01-31 | no assertion criteria provided | clinical testing |