ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.130del (p.Leu44fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287217 SCV002577430 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2022-07-26 criteria provided, single submitter clinical testing PVS1, PM2

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