ClinVar Miner

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

gnomAD frequency: 0.02594  dbSNP: rs8187801
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Total submissions: 9
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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

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