ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2769G>A (p.Glu923=)

gnomAD frequency: 0.00003  dbSNP: rs755268343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491021 SCV001695601 likely benign Developmental and epileptic encephalopathy 94 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439180 SCV002751603 likely benign Inborn genetic diseases 2018-01-04 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.
PreventionGenetics, part of Exact Sciences RCV004734212 SCV005352488 likely benign CHD2-related disorder 2024-06-17 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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