ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) (rs201132710)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081861 SCV000113796 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
Invitae RCV000634457 SCV000755767 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719812 SCV000850682 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 RCV000081861 SCV000966267 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly2813Gly in exon 38 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 0.70% (57/8150) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs201132710).

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