ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)

gnomAD frequency: 0.00029  dbSNP: rs118109635
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224014 SCV000280956 likely benign not provided 2016-05-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000267628 SCV000334305 benign not specified 2015-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000267628 SCV000722525 likely benign not specified 2017-09-25 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 RCV000224014 SCV001087420 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130866 SCV001290461 benign Progressive familial intrahepatic cholestasis type 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.
PreventionGenetics, part of Exact Sciences RCV003919903 SCV004731313 benign ABCB11-related disorder 2019-03-14 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).

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