Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156149 | SCV000205864 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2013-11-04 | criteria provided, single submitter | clinical testing | The 396+2T>G variant in EDA has been reported in one individual with X-linked hy pohidrotic ectodermal dysplasia (Bashyam 2012). This variant occurs in the inva riant region (+/- 1,2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. In summary, this va riant meets our criteria to be classified as pathogenic (http://pcpgm.partners.o rg/LMM) |