Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001239667 | SCV001412558 | benign | Spastic paraplegia | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002567936 | SCV003734018 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.2926C>T (p.R976C) 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 2926, causing the arginine (R) at amino acid position 976 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001828927 | SCV002086705 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-09-06 | no assertion criteria provided | clinical testing |