Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288699 | SCV001476009 | uncertain significance | not provided | 2022-01-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541790 | SCV003267999 | likely benign | Spastic paraplegia | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002542996 | SCV003527641 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.12190C>A (p.P4064T) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to A substitution at nucleotide position 12190, causing the proline (P) at amino acid position 4064 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001835372 | SCV003820633 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835372 | SCV002086133 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-03-19 | no assertion criteria provided | clinical testing |