ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.204-4C>A

dbSNP: rs377055239
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294209 SCV000338968 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV001087533 SCV000763958 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-01-19 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252083 SCV002523714 uncertain significance See cases 2020-06-24 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
PreventionGenetics, part of Exact Sciences RCV003947903 SCV004762142 likely benign CYBA-related condition 2023-12-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.