ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)

gnomAD frequency: 0.00239  dbSNP: rs190548814
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174934 SCV000226338 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV000538270 SCV000631247 benign CHARGE association 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001721106 SCV000714552 benign not provided 2019-12-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30653986)
Ambry Genetics RCV002317008 SCV000850683 benign Inborn genetic diseases 2017-05-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174934 SCV000967055 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly1233Ser in exon 15 of CHD7: This variant is not expected to have clinical s ignificance because it has been identified in 0.87% (85/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs190548814).
Genetic Services Laboratory, University of Chicago RCV000174934 SCV002071512 benign not specified 2017-12-05 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000174934 SCV001979545 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001721106 SCV001980091 likely benign not provided no assertion criteria provided clinical testing

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