ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4592+18G>A

gnomAD frequency: 0.00174  dbSNP: rs116022337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427593 SCV000523348 benign not specified 2016-02-22 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514417 SCV000609996 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062571 SCV002413489 benign Developmental and epileptic encephalopathy 94 2025-01-27 criteria provided, single submitter clinical testing

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