ClinVar Miner

Submissions for variant NM_002283.4(KRT85):c.233G>A (p.Arg78His)

gnomAD frequency: 0.03613  dbSNP: rs61630004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455333 SCV000539488 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 533/12976=4.1%
Mendelics RCV000007238 SCV001138746 benign Ectodermal dysplasia 4, hair/nail type 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000056956 SCV001842636 benign not provided 2021-02-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 16525032, 25333069, 22995991)
Invitae RCV000056956 SCV002476038 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000007238 SCV005086715 likely benign Ectodermal dysplasia 4, hair/nail type 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of ectodermal dysplasia 4, hair/nail type (MIM#602032), with 114 homozygotes in gnomAD v3. (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
OMIM RCV000007238 SCV000027434 pathogenic Ectodermal dysplasia 4, hair/nail type 2010-03-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056956 SCV000088069 not provided not provided no assertion provided not provided

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.