Submissions for variant NM_006996.3(SLC19A2):c.-4C>T

gnomAD frequency: 0.16749  dbSNP: rs2072757

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118355	SCV000152755	benign	not specified	2013-04-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000377830	SCV000350538	benign	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000262382	SCV000350539	benign	Thiamine-responsive megaloblastic anemia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000118355	SCV000517646	benign	not specified	2015-12-02	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	RCV000377830	SCV002055713	benign	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118355	SCV001739832	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118355	SCV001955461	benign	not specified		no assertion criteria provided	clinical testing