ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+8_1947+11dup

dbSNP: rs3837910
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625009 SCV000743484 benign Niemann-Pick disease, type C1 2016-06-06 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625009 SCV000744746 benign Niemann-Pick disease, type C1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000625009 SCV001676000 likely benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974958 SCV004797828 likely benign NPC1-related disorder 2023-09-15 criteria provided, single submitter 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).
Eurofins Ntd Llc (ga) RCV000078469 SCV000110325 benign not specified 2013-04-05 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625009 SCV000745706 likely benign Niemann-Pick disease, type C1 2017-05-22 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078469 SCV001809600 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699116 SCV001921431 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000078469 SCV001930337 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078469 SCV001969036 benign not specified no assertion criteria provided clinical testing

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