ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp)

dbSNP: rs1563659678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Genetique Biologique, CHU de Poitiers RCV000770777 SCV000899279 likely pathogenic CHARGE association 2019-04-30 criteria provided, single submitter clinical testing Family history of CHARGE syndrome. Variation found on each affected patients.

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