ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+8_1947+11dup (rs3837910)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625009 SCV000744746 benign Niemann-Pick disease type C1 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078469 SCV000110325 benign not specified 2013-04-05 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625009 SCV000743484 benign Niemann-Pick disease type C1 2016-06-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625009 SCV000745706 likely benign Niemann-Pick disease type C1 2017-05-22 no assertion criteria provided clinical testing

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