ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.82+2T>C (rs879253740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000234869 SCV000029219 pathogenic Niemann-Pick disease type C2 2007-04-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000234869 SCV000272929 pathogenic Niemann-Pick disease type C2 2014-11-11 no assertion criteria provided research

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