ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu)

dbSNP: rs2150793887
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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 RCV001795815 SCV002037106 likely pathogenic CHARGE syndrome no assertion criteria provided clinical testing

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