ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg)

dbSNP: rs755066542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414784 SCV000328797 likely pathogenic CHARGE syndrome 2015-02-05 no assertion criteria provided clinical testing This variant was reported in an individual with features which include global developmental delay, developmental regression, intellectual disability, muscular dystrophy, hypotonia, and dysmorphic features. A pathogenic variant in DMD (NM_004006.2; c.5652delG) was also reported in this individual.

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