ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) (rs1060499557)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Goettingen RCV000470349 SCV000502998 pathogenic Seckel syndrome 5 2016-09-22 no assertion criteria provided research was found in homozygous state, inherited from parents, with typical clinical features

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