ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4534-13T>G

gnomAD frequency: 0.01094  dbSNP: rs114996731
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145672 SCV000192774 uncertain significance CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000176104 SCV000227702 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176104 SCV000312974 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353027 SCV000474437 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000176104 SCV000967056 benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.4534-13T>G in intron 19 of CHD7: This variant is not expected to have clinical significance because it has been identified in 3.79% (370/9758) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs114996731).
Invitae RCV000145672 SCV001723821 benign CHARGE association 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000514439 SCV001946035 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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