ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)

dbSNP: rs2147519384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine RCV001843310 SCV001832541 pathogenic Hypohidrotic X-linked ectodermal dysplasia no assertion criteria provided clinical testing

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