ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg)

gnomAD frequency: 0.00009  dbSNP: rs753058189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486520 SCV000570905 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001064994 SCV001229932 likely benign Developmental and epileptic encephalopathy 94 2024-12-17 criteria provided, single submitter clinical testing

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