ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1001G>A (p.Arg334His)

gnomAD frequency: 0.00042  dbSNP: rs142948132
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864637 SCV001005464 benign Hypohidrotic X-linked ectodermal dysplasia 2024-01-27 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252063 SCV002523532 benign See cases 2020-02-17 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002494688 SCV002801686 benign Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 2021-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573758 SCV004165283 benign not provided 2023-12-01 criteria provided, single submitter clinical testing EDA: BS1, BS2
OMIM RCV000239557 SCV000297844 pathogenic Tooth agenesis, selective, X-linked, 1 2016-08-17 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000239557 SCV001142502 benign Tooth agenesis, selective, X-linked, 1 2020-01-06 no assertion criteria provided curation NM_001399.4:c.1001G>A in EDA gene has an allele frequency of 0.011 in East Asian subpopulation in the gnomAD database, including 2 homozygous occurrences, and 54 hemizygotes. This variant was reported in a male patient with Non-syndromic Oligodontia, inherited from his mother, which indicated a X-linked recessive inheritance (PMID: 19278982). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573758 SCV001800085 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573758 SCV001966850 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000864637 SCV002087204 benign Hypohidrotic X-linked ectodermal dysplasia 2020-07-23 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.