NM_153704.6:c.457T>G

chr8:93763892

Likely Pathogenic, Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
607361.8.1	Saudi Arabia	2	Likely Pathogenic, Pathogenic	Meckel Syndrome, Type 3	Al-Hamed et al. 2016
607361.8.2	Saudi Arabia	1	Likely Pathogenic, Pathogenic		Al-Hamed et al. 2016	Father of patient 607361.8.1
607361.8.3	Saudi Arabia	1	Likely Pathogenic, Pathogenic		Al-Hamed et al. 2016	Mother of patient 607361.8.1