ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2395C>T (p.Leu799=)

gnomAD frequency: 0.00002  dbSNP: rs369618673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001479454 SCV001683750 likely benign Developmental and epileptic encephalopathy 94 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540421 SCV004793168 likely benign CHD2-related disorder 2019-03-06 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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