ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.99_100dup (p.Ala34fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796926 SCV005416535 pathogenic Hypohidrotic X-linked ectodermal dysplasia criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM6_Supporting

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