ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3714+4A>G

gnomAD frequency: 0.00039  dbSNP: rs191258109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674496 SCV001887720 benign not provided 2020-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001674496 SCV003516012 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551969 SCV004762257 likely benign CHD8-related disorder 2019-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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