ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)

dbSNP: rs2147541270
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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 RCV001667868 SCV001890921 pathogenic Developmental and epileptic encephalopathy, 9 no assertion criteria provided clinical testing

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