ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002617735 SCV002963704 benign Developmental and epileptic encephalopathy 94 2023-02-18 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV004571189 SCV004175089 uncertain significance not provided 2019-12-17 no assertion criteria provided clinical testing

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