ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.748C>G (p.Pro250Ala) (rs78245253)

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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 RCV000121148 SCV000306843 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261596 SCV000440690 likely benign Lymphedema, primary, with myelodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459452 SCV000554451 benign Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-01-10 criteria provided, single submitter clinical testing
ITMI RCV000121148 SCV000085316 not provided not specified 2013-09-19 no assertion provided reference population

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