ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)

gnomAD frequency: 0.00028  dbSNP: rs188900504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177527 SCV000229410 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362906 SCV002656380 benign Inborn genetic diseases 2018-11-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002517712 SCV003493642 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552996 SCV004761221 likely benign CHD8-related disorder 2023-12-18 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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