ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2091T>A (p.Leu697=)

gnomAD frequency: 0.00002  dbSNP: rs770949083
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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 RCV001474133 SCV001678299 likely benign Developmental and epileptic encephalopathy 94 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001545307 SCV001764617 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533827 SCV004719725 likely benign CHD2-related disorder 2019-06-14 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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