Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000538701 | SCV000629478 | likely benign | Spastic paraplegia | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765122 | SCV000896344 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000765122 | SCV002026510 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002528313 | SCV003686877 | uncertain significance | Inborn genetic diseases | 2024-04-23 | criteria provided, single submitter | clinical testing | The c.6640C>T (p.R2214C) 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 6640, causing the arginine (R) at amino acid position 2214 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Athena Diagnostics | RCV003482278 | SCV004229953 | uncertain significance | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |
Natera, |
RCV000765122 | SCV001463598 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-09-16 | no assertion criteria provided | clinical testing |