A: The variant NC_000019.10:g.38585009C>A in gene RYR1 is classified as 'Uncertain_significance' for Congenital_muscular_dystrophy|EMG:_myopathic_abnormalities|Generalized_muscle_weakness|Congenital_hip_dislocation. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242|Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726|Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674|Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555. Review status: criteria provided, single submitter.