Submissions for variant NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)

dbSNP: rs8187692

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176524	SCV000228195	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378633	SCV000359804	likely benign	Dubin-Johnson syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000947277	SCV001093449	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000947277	SCV001944721	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22290738)
PreventionGenetics, part of Exact Sciences	RCV003965274	SCV004778686	benign	ABCC2-related condition	2019-08-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).