ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) (rs28942107)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790787 SCV000227757 pathogenic not provided 2012-07-02 criteria provided, single submitter clinical testing
Counsyl RCV000003106 SCV000487037 likely pathogenic Niemann-Pick disease type C1 2016-09-28 criteria provided, single submitter clinical testing
OMIM RCV000003106 SCV000023264 pathogenic Niemann-Pick disease type C1 2001-07-01 no assertion criteria provided literature only

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