ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) (rs1553785033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000513671 SCV000608446 likely pathogenic Fanconi-Bickel syndrome 2016-02-01 criteria provided, single submitter clinical testing This missense variation is found to be likely pathogenic on the basis on in silico tools: Mutationtaster (http://www.mutationtaster.org/), http://sift.jcvi.org/, http://genetics.bwh.harvard.edu/pph2/ Mother and father were found to be carrier of this variation.

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