ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser)

dbSNP: rs2145335710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578730 SCV001806025 uncertain significance Niemann-Pick disease, type C1 2021-07-14 criteria provided, single submitter clinical testing

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