ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) (rs184814820)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081862 SCV000113797 benign not specified 2013-07-10 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000258075 SCV000328352 benign CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260614 SCV000474530 likely benign Hypogonadotropic hypogonadism 5 with or without anosmia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000081862 SCV000512586 benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000258075 SCV000562424 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514783 SCV000610550 benign not provided 2017-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718499 SCV000849363 benign History of neurodevelopmental disorder 2019-08-30 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;In silico models in agreement (benign)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081862 SCV000966268 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu2984Phe in exon 38 of CHD7: This variant is not expected to have clinical s ignificance because it has been identified in 1.44% (73/5066) of Finnish chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs184814820).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.