ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) (rs16990018)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020247 SCV000040601 benign Genetic prion diseases 2008-12-18 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000020247 SCV000434231 benign Genetic prion diseases 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000644585 SCV000766285 benign Huntington disease-like 1 2017-11-28 criteria provided, single submitter clinical testing
OMIM RCV000014348 SCV000034597 uncertain significance Spongiform encephalopathy with neuropsychiatric features 2012-02-01 no assertion criteria provided literature only

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