ClinVar Miner

Submissions for variant NM_006446.5(SLCO1B1):c.633A>G (p.Ile211Met)

gnomAD frequency: 0.00003  dbSNP: rs201722521
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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 RCV000316098 SCV000377361 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.
Breakthrough Genomics, Breakthrough Genomics RCV004705241 SCV005214291 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699438 SCV001923173 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699438 SCV001971237 benign not specified no assertion criteria provided clinical testing

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