ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.429C>T (p.Ala143=)

gnomAD frequency: 0.00679  dbSNP: rs113903638
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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 RCV000294839 SCV000415761 benign Maturity-onset diabetes of the young type 7 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000946592 SCV001092736 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000946592 SCV001757115 benign not provided 2020-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553588 SCV001774492 benign not specified 2021-07-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001553588 SCV002067873 benign not specified 2019-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000294839 SCV002801881 benign Maturity-onset diabetes of the young type 7 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000946592 SCV005242336 benign not provided criteria provided, single submitter not provided

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