ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3698A>G (p.His1233Arg)

dbSNP: rs2054197477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090942 SCV001246735 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396139 SCV001597862 likely benign Developmental and epileptic encephalopathy 94 2022-07-11 criteria provided, single submitter clinical testing

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