ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2795+19T>C

gnomAD frequency: 0.00342  dbSNP: rs200103695
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175269 SCV000226729 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000607454 SCV000743480 benign Niemann-Pick disease, type C1 2016-03-24 criteria provided, single submitter clinical testing
Invitae RCV000607454 SCV001721460 benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001668336 SCV001883139 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000607454 SCV002799117 benign Niemann-Pick disease, type C1 2021-09-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607454 SCV000733756 likely benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000607454 SCV000745698 likely benign Niemann-Pick disease, type C1 2017-02-20 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000175269 SCV001918631 benign not specified no assertion criteria provided clinical testing

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