ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2614-45A>G

gnomAD frequency: 0.79408  dbSNP: rs6471902
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000145703 SCV000312960 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579203 SCV001806652 benign CHARGE syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579204 SCV001806653 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001610443 SCV001833555 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610443 SCV005268355 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145703 SCV000192813 likely benign not specified no assertion criteria provided clinical testing

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