Submissions for variant NM_022437.3(ABCG8):c.576C>A (p.Ile192=)

dbSNP: rs148058949

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732858	SCV000860854	uncertain significance	not provided	2018-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002352251	SCV002650746	likely benign	Cardiovascular phenotype	2021-05-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330932	SCV004038911	likely benign	not specified	2023-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965537	SCV004781511	likely benign	ABCG8-related disorder	2023-06-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).