ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) (rs138642043)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175307 SCV000226774 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425907 SCV000510587 likely benign not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000175307 SCV000730219 likely benign not specified 2017-09-28 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 RCV000425907 SCV001113431 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001133841 SCV001293555 benign Progressive familial intrahepatic cholestasis 2 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003553 SCV001161897 uncertain significance Cholestasis, intrahepatic, of pregnancy 3 no assertion criteria provided research

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