Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538311 | SCV000629452 | likely benign | Spastic paraplegia | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV002473047 | SCV002770990 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527683 | SCV003637233 | uncertain significance | Inborn genetic diseases | 2022-08-24 | criteria provided, single submitter | clinical testing | The c.11717C>T (p.A3906V) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 11717, causing the alanine (A) at amino acid position 3906 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001835845 | SCV002086145 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-15 | no assertion criteria provided | clinical testing |