ClinVar Miner

Submissions for variant NM_017780.3(CHD7):c.4534-13T>G (rs114996731)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514439 SCV000609930 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176104 SCV000227702 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145672 SCV000192774 uncertain significance CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000145672 SCV000474436 likely benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353027 SCV000474437 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000176104 SCV000312974 benign not specified criteria provided, single submitter clinical testing

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