Submissions for variant NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=)

gnomAD frequency: 0.63165  dbSNP: rs1128503

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174498	SCV000225808	benign	not specified	2014-08-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000835734	SCV000977541	benign	not provided	2018-03-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics	RCV000835734	SCV005271883	benign	not provided		criteria provided, single submitter	not provided
Bruce Budowle Laboratory, University of North Texas Health Science Center	RCV001029394	SCV001192180	drug response	Tramadol response	2018-04-28	no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003975274	SCV004797799	likely benign	ABCB1-related disorder	2021-07-21	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).