ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2802A>G (p.Val934=)

gnomAD frequency: 0.00001  dbSNP: rs544488824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605413 SCV000732496 likely benign not specified 2017-06-15 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 RCV001465686 SCV001669677 likely benign Developmental and epileptic encephalopathy 94 2023-09-18 criteria provided, single submitter clinical testing

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