ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)

dbSNP: rs1928217668
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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 RCV001089900 SCV001244294 pathogenic Developmental and epileptic encephalopathy, 9 criteria provided, single submitter clinical testing

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