Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002266459 | SCV002548491 | uncertain significance | not specified | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003164389 | SCV003878821 | uncertain significance | Inborn genetic diseases | 2023-02-22 | criteria provided, single submitter | clinical testing | The c.6383A>G (p.D2128G) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 6383, causing the aspartic acid (D) at amino acid position 2128 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003588792 | SCV004272489 | likely benign | Spastic paraplegia | 2023-02-13 | criteria provided, single submitter | clinical testing |