Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001442078 | SCV001645019 | likely benign | Spastic paraplegia | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160779 | SCV003871649 | uncertain significance | Inborn genetic diseases | 2023-01-11 | criteria provided, single submitter | clinical testing | The c.10709T>C (p.I3570T) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a T to C substitution at nucleotide position 10709, causing the isoleucine (I) at amino acid position 3570 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003405668 | SCV004136798 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | SACS: BP4 |