ClinVar Miner

Submissions for variant NM_002032.3(FTH1):c.*389A>G

gnomAD frequency: 0.01102  dbSNP: rs1801327
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295412 SCV000372812 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350392 SCV000372813 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400061 SCV000372814 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001823886 SCV000372815 benign Hemochromatosis type 5 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.
Illumina Laboratory Services, Illumina RCV001106668 SCV001263752 uncertain significance Retinitis pigmentosa 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001548273 SCV001768151 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001548273 SCV002544569 benign not provided 2023-05-01 criteria provided, single submitter clinical testing BEST1: BS1, BS2; FTH1: BS1, BS2

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