ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) (rs483352886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000119327 SCV000220893 likely pathogenic Niemann-Pick disease type C1 2014-11-17 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725736 SCV000339053 pathogenic not provided 2016-01-29 criteria provided, single submitter clinical testing
OMIM RCV000119327 SCV000023253 pathogenic Niemann-Pick disease type C1 1999-07-01 no assertion criteria provided literature only
Shanghain Institute for Pediatric Research RCV000119327 SCV000154186 pathogenic Niemann-Pick disease type C1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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