ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+10G>C (rs71534236)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608902 SCV000733765 likely benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078468 SCV000110324 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608902 SCV000745712 likely benign Niemann-Pick disease type C1 2016-06-20 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382946 SCV000407877 uncertain significance Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675571 SCV000801262 likely benign not provided 2017-05-10 no assertion criteria provided clinical testing

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