ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2604+30del (rs746440359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625006 SCV000743481 benign Niemann-Pick disease type C1 2016-06-06 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675561 SCV000801252 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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