ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140411 SCV003807086 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2022-04-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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