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. Author manuscript; available in PMC: 2021 Aug 19.
Published in final edited form as: Hum Mutat. 2020 Dec 25;42(3):223–236. doi: 10.1002/humu.24152

Table 2.

Point system created for the specifications of the PS4 rule*

Classic LFS
  • 1 point for each proband

Chompret 2015
  • 0.5 point for each proband

PS4 Evidence Strength # of Points Required
PS4 4 or more points
PS4_Moderate 2–3 points
PS4_Supporting 1 point
*

Not to be used if a variant also meets BS1 or BA1 rules.