ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2131-6_2131-4del (rs11299077)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000377829 SCV000333225 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675565 SCV000801256 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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