Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699200 | SCV000827900 | likely benign | Wilms tumor 1 | 2023-02-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533551 | SCV003737759 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The c.1181A>G (p.K394R) alteration is located in exon 5 (coding exon 5) of the GPC3 gene. This alteration results from a A to G substitution at nucleotide position 1181, causing the lysine (K) at amino acid position 394 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |