Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001039809 | SCV001203357 | likely benign | Spastic paraplegia | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004963010 | SCV005498798 | uncertain significance | Inborn genetic diseases | 2024-09-11 | criteria provided, single submitter | clinical testing | The c.9232A>G (p.N3078D) 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 9232, causing the asparagine (N) at amino acid position 3078 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274925 | SCV001459485 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-09-16 | no assertion criteria provided | clinical testing |