ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)

dbSNP: rs483352889
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shanghain Institute for Pediatric Research RCV000119331 SCV000154190 pathogenic Niemann-Pick disease, type C1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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