ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly)

gnomAD frequency: 0.00001  dbSNP: rs781200968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376669 SCV001478014 likely pathogenic Global developmental delay; Seizure; Intellectual disability 2021-01-18 criteria provided, single submitter research

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