ClinVar Miner

Submissions for variant NM_000443.3(ABCB4):c.523A>G (p.Thr175Ala) (rs58238559)

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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 RCV000224371 SCV000280974 benign not provided 2016-01-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244656 SCV000331491 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000244656 SCV000520645 likely benign not specified 2017-09-21 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244656 SCV000538211 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 110/13006=8.45%; Frequency in ESP (EA): 103/8600=1.19%
OMIM RCV000014690 SCV000034945 pathogenic Cholecystitis 2001-05-01 no assertion criteria provided literature only
PreventionGenetics RCV000244656 SCV000304294 benign not specified criteria provided, single submitter clinical testing

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