ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) (rs2068096)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081848 SCV000113783 benign not specified 2015-08-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081848 SCV000192788 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081848 SCV000312990 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351247 SCV000474474 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000081848 SCV000603084 benign not specified 2018-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081848 SCV000731863 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu2092Glu in exon 31 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 30.76% (3016/9804) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs2068096).
Athena Diagnostics Inc RCV000711196 SCV000841527 benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715576 SCV000846405 benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000405798 SCV001000582 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing

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