Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247940 | SCV001421393 | likely benign | Glycogen storage disease IXc | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002570363 | SCV003568808 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.1184C>T (p.A395V) alteration is located in exon 10 (coding exon 9) of the PHKG2 gene. This alteration results from a C to T substitution at nucleotide position 1184, causing the alanine (A) at amino acid position 395 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |