Submissions for variant NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)

gnomAD frequency: 0.53370  dbSNP: rs2306283

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251891	SCV000311495	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405902	SCV000377354	benign	Rotor syndrome	2018-03-06	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000405902	SCV000605176	benign	Rotor syndrome	2023-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000755390	SCV000977586	benign	not provided	2018-03-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV000405902	SCV002057247	benign	Rotor syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000405902	SCV000733147	benign	Rotor syndrome		no assertion criteria provided	clinical testing
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University	RCV000999564	SCV001156260	benign	Gilbert syndrome	2019-05-01	no assertion criteria provided	case-control
Clinical Genetics, Academic Medical Center	RCV000251891	SCV001921562	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251891	SCV001955055	benign	not specified		no assertion criteria provided	clinical testing