Submissions for variant NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)

gnomAD frequency: 0.02594  dbSNP: rs8187801

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175398	SCV000226873	benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175398	SCV000304288	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000175398	SCV000521296	benign	not specified	2016-02-19	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.
Invitae	RCV000965756	SCV001113033	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160034	SCV001321801	benign	Cholestasis, intrahepatic, of pregnancy, 3	2017-04-28	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.
Illumina Laboratory Services, Illumina	RCV001160035	SCV001321802	benign	Progressive familial intrahepatic cholestasis type 3	2017-04-28	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000175398	SCV002050894	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000175398	SCV001743937	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000175398	SCV001929878	benign	not specified		no assertion criteria provided	clinical testing