ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3522+1G>A

dbSNP: rs1804369859
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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 RCV001293772 SCV001482420 pathogenic CHARGE syndrome 2021-03-03 criteria provided, single submitter clinical testing This splice variant was found in a patient with clinically verified CHARGE syndrome. The mutation affects the canonical splice site and other mutations affecting this splice site were already described to be pathogenic (Janssen et al. 2012). In summary, using ACMG criteria PVS1_vstr, PM2, PP5 we classified this variant as pathogenic

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