ClinVar Miner

Submissions for variant NM_006446.5(SLCO1B1):c.481+1G>T

gnomAD frequency: 0.00934  dbSNP: rs77271279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275027 SCV000377357 likely benign Rotor syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000275027 SCV001157072 uncertain significance Rotor syndrome 2023-05-26 criteria provided, single submitter clinical testing
OMIM RCV000275027 SCV000044682 pathogenic Rotor syndrome 2012-02-01 no assertion criteria provided literature only

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