Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288711 | SCV001476023 | uncertain significance | not provided | 2020-08-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001830101 | SCV002803909 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541792 | SCV003265449 | likely benign | Spastic paraplegia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537977 | SCV003534439 | uncertain significance | Inborn genetic diseases | 2021-06-29 | criteria provided, single submitter | clinical testing | The c.2585C>T (p.P862L) 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 2585, causing the proline (P) at amino acid position 862 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001830101 | SCV002086715 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-04 | no assertion criteria provided | clinical testing |