ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer)

dbSNP: rs1563595095
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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 RCV000758255 SCV000886505 pathogenic CHARGE association 2018-12-31 criteria provided, single submitter clinical testing The stop-gained variant is a de novo variant causing protein truncation. The patient's phenotype matched the Blake's criteria of CHARGE syndrome.

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