ClinVar Miner

Submissions for variant NM_000311.4(PRNP):c.385A>G (p.Met129Val) (rs1799990)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020244 SCV000040598 benign Genetic prion diseases 2008-12-18 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000118064 SCV000152393 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000020244 SCV000434229 benign Genetic prion diseases 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000014331 SCV000034580 risk factor Prion disease, susceptibility to 2009-11-19 no assertion criteria provided literature only
OMIM RCV000014332 SCV000034581 risk factor Alzheimer disease, early-onset, susceptibility to 2009-11-19 no assertion criteria provided literature only
OMIM RCV000014333 SCV000034582 risk factor Aphasia, primary progressive, susceptibility to 2009-11-19 no assertion criteria provided literature only

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