ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)

gnomAD frequency: 0.00021  dbSNP: rs140353351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756666 SCV000884546 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV000756666 SCV001023056 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110375 SCV001267804 benign Rotor syndrome 2017-07-21 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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