ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=)

gnomAD frequency: 0.00037  dbSNP: rs61752836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316784 SCV000850514 likely benign Inborn genetic diseases 2017-03-09 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.
Invitae RCV000871092 SCV001012693 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000871092 SCV001820925 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871092 SCV004033282 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CHD8: BP4, BS2

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