ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.491A>C (p.Glu164Ala) (rs397516663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037173 SCV000060830 uncertain significance not specified 2012-08-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Glu164Ala v ariant in EDA has been reported in one Chinese female with features of hypohidro tic ectodermal dysplasia and her mother and was absent from 150 control X chromo somes (Fan 2008). Although additional data is needed to determine the clinical s ignificance of this variant, we would lean towards a more likely pathogenic role for this variant.
Invitae RCV000990855 SCV001091623 benign Hypohidrotic X-linked ectodermal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990855 SCV001141904 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2019-05-28 criteria provided, single submitter clinical testing

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