Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036582 | SCV001199955 | likely benign | Saldino-Mainzer syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002489544 | SCV002780275 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2022-03-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552463 | SCV003687079 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The c.4205T>C (p.M1402T) alteration is located in exon 31 (coding exon 29) of the IFT140 gene. This alteration results from a T to C substitution at nucleotide position 4205, causing the methionine (M) at amino acid position 1402 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |