Submissions for variant NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser)

gnomAD frequency: 0.00165  dbSNP: rs17222540

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000372140	SCV000333743	likely benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000761749	SCV000891934	likely benign	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV000761749	SCV001116750	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104274	SCV001261126	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences	RCV003947845	SCV004757887	likely benign	ABCC2-related condition	2021-03-29	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).