ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.161A>T (p.His54Leu)

dbSNP: rs1569272194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761232 SCV000891188 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-04-27 criteria provided, single submitter clinical testing

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