ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1641A>G (p.Ser547=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595040 SCV002958458 likely benign Developmental and epileptic encephalopathy 94 2023-06-02 criteria provided, single submitter clinical testing

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