ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2131-21dup

dbSNP: rs11299077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000675567 SCV000801258 likely benign not provided 2017-04-25 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675567 SCV001806953 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000675567 SCV001920828 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702832 SCV001931490 benign not specified no assertion criteria provided clinical testing

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