ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5496G>A (p.Glu1832=)

gnomAD frequency: 0.00007  dbSNP: rs766542090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000362876 SCV000344912 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV001501269 SCV001706076 likely benign CHARGE association 2023-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348024 SCV002650077 likely benign Inborn genetic diseases 2018-04-24 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.

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