ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.304T>C (p.Ser102Pro)

gnomAD frequency: 0.36000  dbSNP: rs2072597
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251710 SCV000311532 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350669 SCV000410856 benign Congenital dyserythropoietic anemia type 4 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000251710 SCV000539479 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 44% of total chromosomes in ExAC
GeneDx RCV001651195 SCV001867235 benign not provided 2019-12-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29420372, 29047116, 23125034, 27043150, 24711040)
Invitae RCV001651195 SCV002399502 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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