ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3755-16TC[5]

dbSNP: rs760529810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362230 SCV000407845 uncertain significance Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000900594 SCV001044920 benign Niemann-Pick disease, type C1 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897741 SCV004710399 likely benign NPC1-related disorder 2022-06-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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