ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3214-6C>G

gnomAD frequency: 0.00005  dbSNP: rs750991541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729263 SCV000856910 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
Invitae RCV000729263 SCV001083000 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420291 SCV004115655 uncertain significance ABCB11-related disorder 2023-07-13 criteria provided, single submitter clinical testing The ABCB11 c.3214-6C>G variant is predicted to interfere with splicing. This variant has been previously reported in the compound heterozygous state in an individual with progressive intrahepatic cholestasis (Table 1, Liu et al. 2010. PubMed ID: 19845854). This variant is reported in 0.23% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-169787378-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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