ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)

dbSNP: rs797045448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192528 SCV000246954 pathogenic Seckel syndrome 4 2014-10-09 criteria provided, single submitter clinical testing

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