ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2131-4del

dbSNP: rs11299077
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454671 SCV000539945 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV000675566 SCV001866763 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000614613 SCV001984522 benign Niemann-Pick disease, type C1 2020-04-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614613 SCV000733760 benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614613 SCV000743483 benign Niemann-Pick disease, type C1 2016-06-06 flagged submission clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614613 SCV000745702 benign Niemann-Pick disease, type C1 2016-10-13 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614613 SCV000745704 benign Niemann-Pick disease, type C1 2017-01-06 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675566 SCV000801257 benign not provided 2015-10-26 no assertion criteria provided clinical testing
Natera, Inc. RCV000614613 SCV001455867 benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000454671 SCV001799559 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000454671 SCV001932309 benign not specified no assertion criteria provided clinical testing

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