ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.464G>A (p.Arg155His)

gnomAD frequency: 0.00026  dbSNP: rs144403117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870968 SCV001012549 benign Hypohidrotic X-linked ectodermal dysplasia 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV003225133 SCV003921734 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9683615, 11279189, 20486090, 27054699, 24077912, 26582918)
Natera, Inc. RCV000870968 SCV002087201 likely benign Hypohidrotic X-linked ectodermal dysplasia 2020-04-11 no assertion criteria provided clinical testing

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