ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2911+1del

dbSNP: rs1555633118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673487 SCV000798695 likely pathogenic Niemann-Pick disease, type C1 2018-03-21 criteria provided, single submitter clinical testing

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