ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer)

dbSNP: rs1554597507
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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, University of Goettingen RCV000677125 SCV000788356 likely pathogenic CHARGE syndrome 2018-07-31 no assertion criteria provided clinical testing

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