ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala)

gnomAD frequency: 0.00802  dbSNP: rs12299012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896565 SCV001040663 benign not provided 2018-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001111210 SCV001159213 uncertain significance Rotor syndrome 2023-10-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111210 SCV001268740 likely benign Rotor syndrome 2017-04-27 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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