Submissions for variant NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)

gnomAD frequency: 0.00355  dbSNP: rs17222561

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173998	SCV000225217	benign	not specified	2015-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV000966387	SCV001113703	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103872	SCV001260685	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic	RCV000966387	SCV004225301	uncertain significance	not provided	2022-02-01	criteria provided, single submitter	clinical testing	BS1, PP3
PreventionGenetics, part of Exact Sciences	RCV003917609	SCV004731710	benign	ABCC2-related condition	2020-04-21	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).