ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)

gnomAD frequency: 0.00052  dbSNP: rs367905297
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177902 SCV000229861 uncertain significance not provided 2015-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177902 SCV001018513 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000177902 SCV001748419 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CHD8: BS1, BS2
GeneDx RCV000177902 SCV001942265 benign not provided 2020-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390434 SCV002670596 likely benign Inborn genetic diseases 2017-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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