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

Total submissions: 10

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
Division of Genomic Diagnostics,The 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.
Illumina Clinical Services Laboratory,Illumina	RCV000204649	SCV000474445	likely benign	CHARGE association	2016-06-14	criteria provided, single submitter	clinical testing
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