ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)

dbSNP: rs2058596611
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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 RCV001171636 SCV001197998 likely pathogenic Niemann-Pick disease, type C1 2018-10-01 criteria provided, single submitter clinical testing

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