Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001352317 | SCV001546864 | likely benign | Propionic acidemia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002547553 | SCV003545343 | uncertain significance | Inborn genetic diseases | 2022-03-23 | criteria provided, single submitter | clinical testing | The c.332G>A (p.R111Q) alteration is located in exon 3 (coding exon 3) of the PCCB gene. This alteration results from a G to A substitution at nucleotide position 332, causing the arginine (R) at amino acid position 111 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001352317 | SCV002081468 | uncertain significance | Propionic acidemia | 2020-04-05 | no assertion criteria provided | clinical testing |