NM_022356.4:c.1839-2A>C

Likely Pathogenic

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
610915.2.1	Saudi Arabia	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018
610915.2.2	Saudi Arabia	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018	Relative of 610915.2.1
610915.4	Arab	2	NA	Likely Pathogenic	Osteogenesis Imperfecta, Type VIII	Maddirevula et al. 2018