Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484706 | SCV000569247 | likely pathogenic | not provided | 2016-01-26 | criteria provided, single submitter | clinical testing | The c.986_988delAGA variant has not been reported previously as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. This variant causes an inframe deletion of a single amino acid residue,denoted p.Lys329del. This deletion occurs at a region that is not conserved; however, this variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.986_988delAGA variant is a strong candidate for a pathogenic variant. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000484706 | SCV002583662 | uncertain significance | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | PM4, PM2, PM3_Supporting |
Genomics England Pilot Project, |
RCV001542780 | SCV001760324 | likely pathogenic | ALG11-congenital disorder of glycosylation | no assertion criteria provided | clinical testing |