Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785050 | SCV000923604 | uncertain significance | Glycogen storage disease IXa1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535715 | SCV003586540 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.3590G>T (p.C1197F) alteration is located in exon 33 (coding exon 33) of the PHKA2 gene. This alteration results from a G to T substitution at nucleotide position 3590, causing the cysteine (C) at amino acid position 1197 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |