Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516989 | SCV000614993 | uncertain significance | not specified | 2017-01-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002525076 | SCV003264319 | likely benign | Spastic paraplegia | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004955574 | SCV005498814 | uncertain significance | Inborn genetic diseases | 2024-11-27 | criteria provided, single submitter | clinical testing | The c.9173T>G (p.L3058R) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a T to G substitution at nucleotide position 9173, causing the leucine (L) at amino acid position 3058 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001829476 | SCV002086200 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2019-11-11 | no assertion criteria provided | clinical testing |