Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000364063 | SCV000456896 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000481325 | SCV000568138 | benign | not specified | 2016-11-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000364063 | SCV000647137 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2022-10-05 | criteria provided, single submitter | clinical testing | This variant, c.68_70del, results in the deletion of 1 amino acid(s) of the ADAMTS2 protein (p.Leu23del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 353148). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome Diagnostics Laboratory, |
RCV002278607 | SCV002565912 | benign | Ehlers-Danlos syndrome | 2021-12-13 | criteria provided, single submitter | clinical testing |