Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174603 | SCV000225925 | uncertain significance | not provided | 2015-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362708 | SCV004084744 | uncertain significance | Inborn genetic diseases | 2023-07-17 | criteria provided, single submitter | clinical testing | The c.1175T>G (p.L392R) alteration is located in exon 13 (coding exon 12) of the CEP290 gene. This alteration results from a T to G substitution at nucleotide position 1175, causing the leucine (L) at amino acid position 392 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |