ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) (rs2335052)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121149 SCV000306840 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332089 SCV000440694 benign Lymphedema, primary, with myelodysplasia 2018-03-06 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 RCV000121149 SCV000539224 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
Invitae RCV001521211 SCV001730501 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 RCV000332089 SCV001933736 benign Lymphedema, primary, with myelodysplasia 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701605 SCV001933737 benign Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001711393 SCV001941682 benign not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 16934006, 27153395)
ITMI RCV000121149 SCV000085317 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics,Academic Medical Center RCV000121149 SCV001922422 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121149 SCV001930590 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000121149 SCV001953257 benign not specified no assertion criteria provided clinical testing

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