ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5051-4C>T (rs71640288)

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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 RCV000081838 SCV000113773 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000081838 SCV000258121 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000204649 SCV000259764 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081838 SCV000312978 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270371 SCV000474444 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.
Genetic Services Laboratory,University of Chicago RCV000081838 SCV000594099 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716116 SCV000846951 benign History of neurodevelopmental disorder 2016-05-16 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;Co-occurence with mutation in same gene (phase unknown)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081838 SCV000967057 benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.5051-4C>T in intron 22 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.80% (523/65760) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs71640288).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000081838 SCV001157564 benign not specified 2019-05-22 criteria provided, single submitter clinical testing

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