ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3616del (p.Ile1206fs)

dbSNP: rs1804454376
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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 RCV001281079 SCV001451933 likely pathogenic CHARGE association no assertion criteria provided clinical testing

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