ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)

gnomAD frequency: 0.00169  dbSNP: rs17847484
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305064 SCV000331750 benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339438 SCV000350506 likely benign Thiamine-responsive megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403152 SCV000350507 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.
GeneDx RCV000305064 SCV000521288 benign not specified 2016-07-21 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.
Invitae RCV000960822 SCV001107847 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000403152 SCV004562256 benign Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2023-02-22 criteria provided, single submitter clinical testing

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