ClinVar Miner

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

gnomAD frequency: 0.00229  dbSNP: rs61736186
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Total submissions: 8
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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
Eurofins Ntd Llc (ga) RCV000145706 SCV000229906 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Invitae RCV000472198 SCV000562406 benign CHARGE association 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316926 SCV000850028 likely benign Inborn genetic diseases 2016-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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 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, http://exac.broadinstitute.org; dbSNP rs61736186).
GeneDx RCV001640180 SCV001857154 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492530 SCV002798044 benign CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001640180 SCV004042347 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CHD7: BP4, BP7

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