Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000712956 | SCV000843516 | uncertain significance | not provided | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534513 | SCV003556064 | uncertain significance | Inborn genetic diseases | 2021-06-29 | criteria provided, single submitter | clinical testing | The c.11161G>A (p.G3721S) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 11161, causing the glycine (G) at amino acid position 3721 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003750819 | SCV004377974 | likely benign | Spastic paraplegia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830583 | SCV002086160 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2019-11-11 | no assertion criteria provided | clinical testing |