ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.206G>T (p.Arg69Leu) (rs132630309)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000218834 SCV000603413 benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432524 SCV000511232 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000011779 SCV000746316 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000011779 SCV000630022 benign Hypohidrotic X-linked ectodermal dysplasia 2017-07-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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).
OMIM RCV000011779 SCV000032011 pathogenic Hypohidrotic X-linked ectodermal dysplasia 1996-08-01 no assertion criteria provided literature only

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