ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)

dbSNP: rs1555633637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664738 SCV000788746 likely pathogenic Niemann-Pick disease, type C1 2017-01-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000664738 SCV004810346 uncertain significance Niemann-Pick disease, type C1 2024-04-04 criteria provided, single submitter clinical testing

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