ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) (rs1555633361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660448 SCV000782541 likely pathogenic Niemann-Pick disease type C1 2016-12-01 criteria provided, single submitter clinical testing

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