Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194389 | SCV000246469 | uncertain significance | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002517048 | SCV002942196 | benign | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517047 | SCV003547274 | uncertain significance | Inborn genetic diseases | 2021-12-03 | criteria provided, single submitter | clinical testing | The c.3758-3delC alteration consists of a deletion of a C 3 nucleotides after exon 27 of the ARFGEF2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003947593 | SCV004766232 | likely benign | ARFGEF2-related disorder | 2023-08-23 | 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). |