ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.905-3dup

dbSNP: rs142037828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285767 SCV000430480 uncertain significance Sitosterolemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000285767 SCV002495378 likely benign Sitosterolemia 2022-10-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323518 SCV004029657 uncertain significance not specified 2023-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922454 SCV004740971 likely benign ABCG5-related disorder 2019-10-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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