ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1800del (p.Ile601fs) (rs483352879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000119328 SCV000789754 likely pathogenic Niemann-Pick disease type C1 2017-02-21 criteria provided, single submitter clinical testing
Shanghain Institute for Pediatric Research RCV000119328 SCV000154187 pathogenic Niemann-Pick disease type C1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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