Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001308403 | SCV001497852 | uncertain significance | not provided | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034169 | SCV003952141 | uncertain significance | not specified | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.3260A>G (p.Q1087R) alteration is located in exon 25 (coding exon 22) of the CEP250 gene. This alteration results from a A to G substitution at nucleotide position 3260, causing the glutamine (Q) at amino acid position 1087 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |