Submissions for variant NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) (rs6999971)

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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory,University of Chicago	RCV000145681	SCV000192785	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000145681	SCV000229456	benign	not specified	2014-06-11	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000145681	SCV000312987	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000281386	SCV000474470	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	RCV000350478	SCV000562412	benign	CHARGE association	2019-12-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000145681	SCV000731862	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Pro2045Pro in exon 31 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 4.35% (288/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs6999971).
Athena Diagnostics Inc	RCV000711195	SCV000841526	benign	not provided	2018-03-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715713	SCV000846544	benign	History of neurodevelopmental disorder	2016-03-24	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

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