ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1124del (p.Leu375fs)

dbSNP: rs2107668601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542163 SCV001760831 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS2, PS4_Moderate, PM2

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