ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.351C>G (p.Thr117=)

dbSNP: rs2107672788
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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 RCV001542145 SCV001760813 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3_Very Strong, PS4, PM2, PP1_Strong, PP3

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