ClinVar Miner

Submissions for variant NM_000311.4(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) (rs193922906)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020259 SCV000040613 pathologic Genetic prion diseases 2008-12-18 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000014326 SCV000034575 pathogenic Jakob-Creutzfeldt disease 2004-11-23 no assertion criteria provided literature only
OMIM RCV000014327 SCV000034576 pathogenic Gerstmann-Straussler-Scheinker syndrome 2004-11-23 no assertion criteria provided literature only
OMIM RCV000014328 SCV000034577 pathogenic Huntington disease-like 1 2004-11-23 no assertion criteria provided literature only

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