ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)

dbSNP: rs587783447
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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 RCV000145678 SCV000192781 pathogenic CHARGE syndrome 2013-02-08 criteria provided, single submitter clinical testing

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