ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) (rs141947938)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145657 SCV000192758 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000145657 SCV000202452 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145657 SCV000312955 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000464845 SCV000562414 benign CHARGE association 2020-12-02 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000464845 SCV000803463 benign CHARGE association 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for CHARGE syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS4 => Lack of segregation in affected members of a family. (PMID:21995344).
Ambry Genetics RCV000716498 SCV000847339 benign History of neurodevelopmental disorder 2016-07-01 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
Mendelics RCV000464845 SCV001137629 benign CHARGE association 2019-05-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000145657 SCV001365643 benign not specified 2019-05-22 criteria provided, single submitter clinical testing The p.Gly744Ser variant in CHD7 is classified as benign because it has been identified in 1.5% (364/24154) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BA1.
GeneDx RCV001705943 SCV001862546 benign not provided 2018-08-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25077900, 23891399, 21995344, 22539353)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000145657 SCV001741382 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000145657 SCV001917827 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000145657 SCV001956702 benign not specified no assertion criteria provided clinical testing

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