ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr)

dbSNP: rs387907049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092301 SCV001248733 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
OMIM RCV000023902 SCV000045193 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A 2011-04-08 no assertion criteria provided literature only

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