Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239776 | SCV001412673 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034626 | SCV003618223 | uncertain significance | not specified | 2022-05-31 | criteria provided, single submitter | clinical testing | The c.3257G>A (p.R1086H) alteration is located in exon 25 (coding exon 22) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 3257, causing the arginine (R) at amino acid position 1086 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |