ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2238+39G>A

gnomAD frequency: 0.83608  dbSNP: rs4540437
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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 RCV000145702 SCV000312956 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001636683 SCV000603076 benign not provided 2020-04-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579199 SCV001806648 benign CHARGE association 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579200 SCV001806649 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001636683 SCV001848372 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145702 SCV000192812 likely benign not specified no assertion criteria provided clinical testing

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