ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2403A>G (p.Thr801=)

dbSNP: rs2141836198
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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 RCV001455775 SCV001659541 likely benign Developmental and epileptic encephalopathy 94 2022-11-08 criteria provided, single submitter clinical testing

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