ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2376+43_2376+48dup

gnomAD frequency: 0.76905  dbSNP: rs5891777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248170 SCV000312957 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579201 SCV001806650 benign CHARGE syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579202 SCV001806651 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001640558 SCV001861021 benign not provided 2018-06-16 criteria provided, single submitter clinical testing

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