ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) (rs61736186)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145706 SCV000192824 likely benign not specified 2014-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000145706 SCV000229906 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Invitae RCV000472198 SCV000562406 benign CHARGE association 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719162 SCV000850028 likely benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000145706 SCV001652982 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala2930Ala in exon 38 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.73% (71/9768) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs61736186).

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