Submissions for variant NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)

gnomAD frequency: 0.57896  dbSNP: rs1045642

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000835732	SCV000977539	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.
PreventionGenetics, part of Exact Sciences	RCV003977583	SCV004798493	likely benign	ABCB1-related condition	2021-07-21	criteria provided, single submitter	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).
OMIM	RCV000014699	SCV000034954	benign	MDR1 POLYMORPHISM	2007-01-26	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000441548	SCV000505703	not provided	Non-small cell lung carcinoma	2016-03-10	no assertion provided	literature only
Bruce Budowle Laboratory, University of North Texas Health Science Center	RCV001029504	SCV001192290	drug response	Tramadol response	2018-04-28	no assertion criteria provided	research