ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)

dbSNP: rs74315309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004407 SCV000024579 pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2007-07-01 no assertion criteria provided literature only
GeneReviews RCV001729334 SCV000087041 not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant no assertion provided literature only

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