ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001171635 SCV001197997 likely pathogenic Niemann-Pick disease type C1 2017-11-02 criteria provided, single submitter clinical testing

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