Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000380898 | SCV000440838 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488741 | SCV002799760 | uncertain significance | Cranioectodermal dysplasia 1 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004629195 | SCV005121063 | uncertain significance | Inborn genetic diseases | 2024-04-29 | criteria provided, single submitter | clinical testing | The c.2782C>T (p.R928C) alteration is located in exon 22 (coding exon 22) of the IFT122 gene. This alteration results from a C to T substitution at nucleotide position 2782, causing the arginine (R) at amino acid position 928 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |