ClinVar Miner

Submissions for variant NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001252666 SCV001252686 likely pathogenic Myelodysplastic syndrome 2020-05-21 criteria provided, single submitter clinical testing This heterozygous deletion of exon 4 of GATA2 was identified in germline in a 22-year old female with MDS-U and leukocytoclastic vasculitis. The exact breakpoints and thus the impact on the reading frame are unknown but it does lead to deletion of exon 4 which encodes zinc finger 2, a critical functional domain. The variant segregates with disease in her brother who was diagnosed with MDS in his 20s. The following ACMC/AMP criteria were used: PVS1_strong, PM2.

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