A: The variant NC_000022.11:g.50523994C>T in gene SCO2 is classified as 'Pathogenic' for Myopia_6|Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1|not_provided|SCO2-related_disorder|Tip-toe_gait|Severe_global_developmental_delay|Seizure. Molecular consequence: SO:0001583: missense_variant,SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572. Review status: criteria provided, multiple submitters, no conflicts.