ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter)

dbSNP: rs1341064149
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Translational Medicine Center of Children Development and Disease, Fudan University RCV000824809 SCV000886502 pathogenic CHARGE association 2018-12-31 criteria provided, single submitter clinical testing This stop-gained (c.7222G>T) variant is de novo causing protein truncation. The phenotype of this patient match the Blake's CHARGE syndrome diagnostic criteria.

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