Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001663542 | SCV001880400 | uncertain significance | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002539647 | SCV003288814 | likely benign | Spastic paraplegia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163787 | SCV003864179 | uncertain significance | Inborn genetic diseases | 2023-03-06 | criteria provided, single submitter | clinical testing | The c.10255C>T (p.R3419C) 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 10255, causing the arginine (R) at amino acid position 3419 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001832843 | SCV002086182 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-03-07 | no assertion criteria provided | clinical testing |