What do the haploinsufficiency scores in the clinVar database represent?
Okay, I finally found an official source outlining what the dosage sensitivity scores represent.
0 represents no evidence of dosage sensitivity: clinical interpretation is that dosage differences is &quot;likely benign.&quot;
1 represents little evidence of dosage sensitivity: This can be marked if only secondary evidence shows dosage sensitivity; clinical interpretation is that dosage sensitivity is &quot;uncertain.&quot;
2 represents &quot;Emerging evidence,&quot; meaning that the evidence suggests fairly strongly that the gene is dosage sensitive, but that there is insufficient evidence to prove it.  The clinical interpretation is that dosage sensitivity is &quot;Uncertain, likely pathogenic.&quot;
3 represents &quot;Sufficient evidence,&quot; meaning that the evidence is sufficient to prove that the gene is dosage sensitive.  Clinical interpretation is &quot;Pathogenic.&quot;

Source:

Riggs ER et al., Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet. 81(5): 403–412.