Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001514417 | SCV001722257 | benign | Van der Woude syndrome 2 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002564325 | SCV003750763 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.1469G>A (p.R490H) alteration is located in exon 13 (coding exon 13) of the GRHL3 gene. This alteration results from a G to A substitution at nucleotide position 1469, causing the arginine (R) at amino acid position 490 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003940918 | SCV004749961 | likely benign | GRHL3-related disorder | 2019-06-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |