ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2374-1G>A

dbSNP: rs2145381556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001358671 SCV001554460 pathogenic Niemann-Pick disease, type C1 2021-04-07 criteria provided, single submitter clinical testing

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