ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2728-16G>A

gnomAD frequency: 0.00018  dbSNP: rs111544874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732637 SCV001982942 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073975 SCV002434908 likely benign Developmental and epileptic encephalopathy 94 2024-12-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526860 SCV005039805 likely benign not specified 2024-03-18 criteria provided, single submitter clinical testing

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