ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro)

gnomAD frequency: 0.00016  dbSNP: rs189943255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003642935 SCV001159572 uncertain significance Rotor syndrome 2023-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973022 SCV004795265 likely benign SLCO1B3-related disorder 2021-05-24 no assertion criteria provided 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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