ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) (rs6999971)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145681 SCV000192785 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145681 SCV000229456 benign not specified 2014-06-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145681 SCV000312987 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281386 SCV000474470 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.
Illumina Clinical Services Laboratory,Illumina RCV000350478 SCV000474471 likely benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000350478 SCV000562412 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000145681 SCV000731862 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro2045Pro 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 4.35% (288/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs6999971).
Athena Diagnostics Inc RCV000711195 SCV000841526 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715713 SCV000846544 benign History of neurodevelopmental disorder 2016-03-24 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

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