Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001212079 | SCV001383653 | likely benign | Spastic paraplegia | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001507816 | SCV001713616 | uncertain significance | not provided | 2021-03-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001780126 | SCV002026495 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003363166 | SCV004055272 | uncertain significance | Inborn genetic diseases | 2023-09-01 | criteria provided, single submitter | clinical testing | The c.9275A>T (p.Y3092F) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to T substitution at nucleotide position 9275, causing the tyrosine (Y) at amino acid position 3092 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV001507816 | SCV005390907 | uncertain significance | not provided | 2024-04-08 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with neurodevelopmental disorder to our knowledge; This variant is associated with the following publications: (PMID: 23280630) |
Natera, |
RCV001780126 | SCV002086198 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-14 | no assertion criteria provided | clinical testing |