Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004019522 | SCV003642998 | uncertain significance | not specified | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.1463G>A (p.R488Q) alteration is located in exon 6 (coding exon 6) of the PRPF38B gene. This alteration results from a G to A substitution at nucleotide position 1463, causing the arginine (R) at amino acid position 488 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Richard Lifton Laboratory, |
RCV000122555 | SCV000155063 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |