ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.490G>A (p.Ala164Thr) (rs2335052)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121149 SCV000306840 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332089 SCV000440694 likely benign Lymphedema, primary, with myelodysplasia 2016-06-14 criteria provided, single submitter clinical testing
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
ITMI RCV000121149 SCV000085317 not provided not specified 2013-09-19 no assertion provided reference population

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