ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly)

dbSNP: rs2141871764
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001580772 SCV001810151 likely pathogenic Developmental and epileptic encephalopathy 94 no assertion criteria provided clinical testing

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