Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701760 | SCV000830575 | uncertain significance | Koolen-de Vries syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000701760 | SCV001251584 | uncertain significance | Koolen-de Vries syndrome | 2020-02-19 | criteria provided, single submitter | clinical testing | The KANSL1 3 c.836A>T (p.Asp279Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp279Val variant variant is classified as a variant of unknown significance for Koolen-De Vries syndrome. |