Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815495 | SCV000955953 | likely benign | Wilms tumor 1 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534873 | SCV003537298 | uncertain significance | Inborn genetic diseases | 2022-06-17 | criteria provided, single submitter | clinical testing | The c.1604C>G (p.A535G) alteration is located in exon 8 (coding exon 8) of the GPC3 gene. This alteration results from a C to G substitution at nucleotide position 1604, causing the alanine (A) at amino acid position 535 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |