ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter)

dbSNP: rs1563670964
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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, Cologne University RCV000767865 SCV000897995 pathogenic CHARGE association no assertion criteria provided clinical testing

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