ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) (rs483352882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000119333 SCV000487136 likely pathogenic Niemann-Pick disease type C1 2016-10-11 criteria provided, single submitter clinical testing
Shanghain Institute for Pediatric Research RCV000119333 SCV000154192 pathogenic Niemann-Pick disease type C1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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