ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.611_614del (p.Lys204fs) (rs761470205)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000681446 SCV000588356 likely pathogenic Fructose-biphosphatase deficiency 2012-08-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731102 SCV000858879 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000681446 SCV001137827 pathogenic Fructose-biphosphatase deficiency 2019-05-28 criteria provided, single submitter clinical testing

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