ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.870C>T (p.Gly290=)

gnomAD frequency: 0.00001  dbSNP: rs748380979
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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 RCV001960395 SCV002223712 likely benign Developmental and epileptic encephalopathy 94 2024-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395309 SCV004130932 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CHD2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004734363 SCV005364757 likely benign CHD2-related disorder 2024-05-22 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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