Table 3:

Phenotype Specificity Score and Examples of Application for Increasing Levels of Evidence

Supporting (PS4_P): 1-1.5 points	Moderate (PS4_M): 2-3.5 points	Strong (PS4): 4-15.5 points	Very strong (PS4_VS): ≥16 points
1 proband with phenotype specificity = 1 (child with pediatric score ≥5 or adult with CC score ≥30) OR	2 probands with phenotype specificity = 1 (total of 2 points)	4 probands with phenotype specificity = 1 (total of 4 points)	16 probands with phenotype specificity = 1 (total of 16 points)
2 probands with phenotype specificity = 0.5 (adult CC score = 25-29, child = 4 omitting autism/DD/ID phenotypes) (total of 1 point) OR	1 proband with phenotype specificity = 1 plus 2 probands with phenotype specificity = 0.5 (total of 2 points)	3 probands with phenotype specificity = 1 plus 2 probands with phenotype specificity = 0.5 (total of 4 points)	14 probands with phenotype specificity = 1 plus 4 probands with phenotype specificity = 0.5 (total of 16 points)
1 proband with phenotype specificity = 1 plus 1 proband with phenotype specificity = 0.5 (total of 1.5 points)	2 probands with phenotype specificity = 1 plus 2 probands with phenotype specificity = 0.5 (total of 3 points)	7 probands with phenotype specificity = 1 plus 5 probands with phenotype specificity = 0.5 (total of 9.5 points)	10 probands with phenotype specificity = 1 plus 15 probands with phenotype specificity = 0.5 (total of 17.5 points)
Etc.	Etc.	Etc.	Etc.