Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878300 | SCV001021181 | benign | Nephronophthisis 15 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536792 | SCV003711068 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.2920A>G (p.T974A) alteration is located in exon 24 (coding exon 22) of the CEP164 gene. This alteration results from a A to G substitution at nucleotide position 2920, causing the threonine (T) at amino acid position 974 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |