Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000883215 | SCV001026503 | likely benign | Nephronophthisis 15 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539315 | SCV003662870 | uncertain significance | Inborn genetic diseases | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.2519G>T (p.R840L) alteration is located in exon 20 (coding exon 18) of the CEP164 gene. This alteration results from a G to T substitution at nucleotide position 2519, causing the arginine (R) at amino acid position 840 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |