ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.191del (p.Leu64fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Narges Medical Genetic and Prenatal Diagnosis Lab RCV003328118 SCV004035044 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia no assertion criteria provided clinical testing

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