ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4985del (p.Ser1662fs)

dbSNP: rs1060499937
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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 RCV000456117 SCV000540918 likely pathogenic CHARGE association 2017-04-04 no assertion criteria provided clinical testing CHARGE syndrome

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