OFD1 and primary ciliary dyskinesia: PCD diagnosis requires two pathogenic variants be found in a single known PCD gene, on two opposite chromosomes (in trans) or on one allele, in the case of x-linked or autosomal dominant forms (PIH1D3, RPGR, OFD1, or FOXJ1). Pathogenicity of VUS results should be evaluated on a case-by-case basis, after consultation with either a geneticist or a PCD specialty center; VUS results cannot be assumed as disease-causing for diagnostic purposes.