ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1419G>C (p.Gly473=) (rs186394299)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081819 SCV000113754 benign not specified 2013-08-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081819 SCV000312946 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373805 SCV000474389 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.
Invitae RCV000340199 SCV000562415 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081819 SCV000594098 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715814 SCV000846645 likely benign History of neurodevelopmental disorder 2016-05-11 criteria provided, single submitter clinical testing Other data supporting benign classification;Synonymous alterations with insufficient evidence to classify as benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081819 SCV001365816 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly473Gly in exon 2 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.28% (174/62782) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs186394299).

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