Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501966 | SCV000597960 | uncertain significance | not specified | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003151780 | SCV003840666 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003392336 | SCV004121245 | uncertain significance | WDR62-related condition | 2022-10-24 | criteria provided, single submitter | clinical testing | The WDR62 c.3589C>A variant is predicted to result in the amino acid substitution p.Pro1197Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-36594319-C-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |