Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000937814 | SCV001083607 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288724 | SCV001476036 | benign | not specified | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002544532 | SCV003708062 | uncertain significance | Inborn genetic diseases | 2022-10-06 | criteria provided, single submitter | clinical testing | The c.1871G>A (p.R624Q) alteration is located in exon 17 (coding exon 17) of the PRKCG gene. This alteration results from a G to A substitution at nucleotide position 1871, causing the arginine (R) at amino acid position 624 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |