Submissions for variant NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu)

gnomAD frequency: 0.01516  dbSNP: rs59113707

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000381997	SCV000377368	benign	Rotor syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000432705	SCV000511561	benign	not provided	2016-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV000432705	SCV001109321	benign	not provided	2018-07-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000381997	SCV002048281	likely benign	Rotor syndrome	2023-09-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930305	SCV004745092	likely benign	SLCO1B1-related condition	2021-07-21	criteria provided, single submitter	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).