ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) (rs190548814)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174934 SCV000226338 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV000538270 SCV000631247 benign CHARGE association 2020-10-24 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 RCV000719813 SCV000850683 benign History of neurodevelopmental disorder 2017-05-25 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
Laboratory for Molecular Medicine, Partners HealthCare 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,; dbSNP rs190548814).

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