ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4413+15C>T

gnomAD frequency: 0.01677  dbSNP: rs74029217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434633 SCV000524053 benign not specified 2016-02-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062635 SCV002388782 benign Developmental and epileptic encephalopathy 94 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716457 SCV005297521 benign not provided criteria provided, single submitter not provided

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