ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) (rs80358252)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003108 SCV000221079 likely pathogenic Niemann-Pick disease type C1 2015-01-23 criteria provided, single submitter literature only
Ambry Genetics RCV000623140 SCV000742791 likely pathogenic Inborn genetic diseases 2017-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730873 SCV000858640 pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing
OMIM RCV000003108 SCV000023266 pathogenic Niemann-Pick disease type C1 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000003108 SCV000040579 pathologic Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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