ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)

gnomAD frequency: 0.57004  dbSNP: rs2287622
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174528 SCV000225843 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000174528 SCV000309805 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273829 SCV000418964 benign Progressive familial intrahepatic cholestasis type 2 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000174528 SCV000517637 benign not specified 2016-01-08 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 RCV001511202 SCV001718405 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542896 SCV001761294 benign Benign recurrent intrahepatic cholestasis type 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000273829 SCV001761295 benign Progressive familial intrahepatic cholestasis type 2 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000174528 SCV002051456 benign not specified 2021-12-03 criteria provided, single submitter clinical testing

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