Fig. 7
From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Representative findings from the curation of specific instances of RASopathy functional assays. We assessed the following methods and validation parameters of MAP 2K1/2 and ERK1/2 phosphorylation assays: cell treatment, controls, replication, and output. †Specific instance of assay cited by the Variant Curation Expert Panel (VCEP) as evidence for the PS3/BS3 criteria in pilot variant classification. ‡Specific instance of assay cited by the VCEP as evidence for the PS3/BS3 criteria in pilot variant classification for variants in multiple genes: PMID 18413255 cited as evidence for the PS3/BS3 criteria for variants in BRAF and MAP 2K1/2; PMID 16439621 cited as evidence for PS3/BS3 for variants in KRAS and MAP 2 K1/2; and PMID 21784453 cited as evidence for PS3/BS3 for variants in RAF1 and SOS1, see Additional file 2: Tables S12 and S13 for the full primary literature curation results