ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2189A>G (p.Lys730Arg)

gnomAD frequency: 0.00001  dbSNP: rs767965789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730031 SCV001976787 likely benign Developmental and epileptic encephalopathy 94 2024-01-10 criteria provided, single submitter clinical testing BS2, PM2, PP2

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