ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7203G>A (p.Val2401=)

gnomAD frequency: 0.00084  dbSNP: rs181239271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873670 SCV001015706 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000873670 SCV001916465 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372479 SCV002672364 likely benign Inborn genetic diseases 2017-12-07 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.
CeGaT Center for Human Genetics Tuebingen RCV000873670 SCV004699748 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CHD8: BP4, BP7, BS1

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