Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001422446 | SCV001624996 | likely benign | Familial infantile myasthenia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003284314 | SCV003958549 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.494T>C (p.I165T) alteration is located in exon 3 (coding exon 3) of the CHAT gene. This alteration results from a T to C substitution at nucleotide position 494, causing the isoleucine (I) at amino acid position 165 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |