Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218834 | SCV000269062 | benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | p.Arg69Leu in exon 1 of EDA: This variant has been reported in 5 probands with X LHED, one of whom also carried a pathogenic variant in the same gene (Kere1996, Vincent 2001, Schneider 2011, Dietz 2013). However, this variant is not expected to have clinical significance because it has been identified in 0.5% (231/47072 ) of European chromosomes (94 hemizygotes) by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs132630309). |
Center for Pediatric Genomic Medicine, |
RCV000432524 | SCV000511232 | benign | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000218834 | SCV000512921 | likely benign | not specified | 2016-11-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000218834 | SCV000603413 | benign | not specified | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000011779 | SCV000630022 | benign | Hypohidrotic X-linked ectodermal dysplasia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000011779 | SCV000746316 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000011779 | SCV001141902 | uncertain significance | Hypohidrotic X-linked ectodermal dysplasia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011779 | SCV000032011 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 1996-08-01 | no assertion criteria provided | literature only |