ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) (rs61995713)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145705 SCV000192823 benign not specified 2019-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000145705 SCV000202446 benign not specified 2014-01-16 criteria provided, single submitter clinical testing
Invitae RCV000988062 SCV000290347 benign CHARGE association 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719078 SCV000849942 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
Mendelics RCV000988062 SCV001137627 likely benign CHARGE association 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159328 SCV001321035 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2018-01-12 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000145705 SCV001652981 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg286Gly in exon 2 of CHD7: This variant is not expected to have clinical significance because it has been identified in 0.99% (95/9614) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61995713).

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