ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) (rs41272437)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715340 SCV000846169 likely benign History of neurodevelopmental disorder 2018-01-22 criteria provided, single submitter clinical testing Structural Evidence;Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730848 SCV000858615 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV001087413 SCV001001861 likely benign CHARGE association 2020-07-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164338 SCV001326461 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289723 SCV001477699 likely benign none provided 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000730848 SCV001946033 benign not provided 2020-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30733481, 33270637)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000730848 SCV001931229 likely benign not provided no assertion criteria provided clinical testing

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