ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) (rs121909744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000017475 SCV001438865 likely pathogenic Fanconi-Bickel syndrome criteria provided, single submitter clinical testing
OMIM RCV000017475 SCV000037747 pathogenic Fanconi-Bickel syndrome 1999-09-01 no assertion criteria provided literature only

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