ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.599C>T (p.Pro200Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dental Genetics Laboratory, Seoul National University School of Dentistry RCV005052087 SCV005088517 pathogenic Hypohidrotic X-linked ectodermal dysplasia no assertion criteria provided clinical testing variation affecting protein function

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