A: The variant NC_000019.10:g.42376207_42376209del in gene MEGF8 is classified as 'Likely_pathogenic' for Craniosynostosis_syndrome|Polydactyly|MEGF8-related_Carpenter_syndrome. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531|Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759. Review status: criteria provided, single submitter.