ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.15C>G (p.Pro5=) (rs1573858)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244510 SCV000306836 benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395196 SCV000440698 benign Lymphedema, primary, with myelodysplasia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000244510 SCV000539225 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244510 SCV000702962 benign not specified 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV001519674 SCV001728581 benign Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2020-12-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000395196 SCV001933738 benign Lymphedema, primary, with myelodysplasia 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701962 SCV001933739 benign Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001711803 SCV001944929 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244510 SCV001741267 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000244510 SCV001922973 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244510 SCV001927967 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000244510 SCV001958202 benign not specified 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.