ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.284del (p.Gly95fs)

dbSNP: rs1060499610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477893 SCV000536893 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2015-12-18 no assertion criteria provided research

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