A: The variant NC_000022.11:g.41808892T>C in gene CCDC134 is classified as 'Pathogenic' for Severe_progressive_deforming_recessive_osteogenesis_imperfecta_(type_III)|Osteogenesis_imperfecta,_IIA_22|Recurrent_fractures. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .|MONDO:MONDO:0030714,MedGen:C5676943,OMIM:619795|Human_Phenotype_Ontology:HP:0002660,Human_Phenotype_Ontology:HP:0002757,Human_Phenotype_Ontology:HP:0002767,Human_Phenotype_Ontology:HP:0002809,MedGen:C0016655. Review status: criteria provided, single submitter.