ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2506-11T>G

gnomAD frequency: 0.00007  dbSNP: rs376323635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712266 SCV000528659 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063366 SCV002486491 likely benign Developmental and epileptic encephalopathy 94 2025-01-19 criteria provided, single submitter clinical testing

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