ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) (rs34799090)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000121147 SCV000247452 benign not specified 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV001079258 SCV000291139 benign Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121147 SCV000306839 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389010 SCV000440695 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.
PreventionGenetics,PreventionGenetics RCV000232396 SCV001132726 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121147 SCV001158577 benign not specified 2019-03-24 criteria provided, single submitter clinical testing
ITMI RCV000121147 SCV000085315 not provided not specified 2013-09-19 no assertion provided reference population

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