The 'Evidence' instrument on the expanded SV tile displays information on the clinical significance of the variant, including ClinGen dosage sensitivity scores and overlap with variants reported in the ClinVar database.

Dosage sensitivity score (ClinGen):

The ClinGen Dosage sensitivity map is a curated list of genes and genomic regions that have been assessed by the ClinGen curation team for haploinsufficiency (sensitivity to a single copy deletions) and triplosensitivity (sensitivity to duplication). The genes and regions are scored by the level of evidence for dosage sensitivity as shown below.

For each variant, the "ClinGen" link in the Evidence section shows the variant region in the Clingen dosage sensitivity website.

The region score only applies if a region is completely contained within the variant.

The gene score only applies to genes that have at least 10% of their genomic region affected by the variant.

In case multiple intersections are found, the maximal dosage sensitivity score is presented.

ClinVar variants

The ClinVar database contains SVs that were discovered in patients and reported by different clinical labs and research groups.

For each variant in the sample, overlap with SV variants in the ClinVar database is investigated using the following criteria:For deletions and duplication – at least 50% reciprocal overlap with the variantFor insertions - up to 500 bps from the breakpoint

The RCV identifier of each matching variant is displayed in the "+" in the ClinVar evidence field, with accompanying hyperlinks to the ClinVar database.