ClinVar Miner

Submissions for variant NC_000003.12:g.(?_128479422)_(128487076_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466360 SCV000563785 pathogenic Deafness-lymphedema-leukemia syndrome 2017-01-20 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GATA2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in GATA2 are known to be pathogenic. Deletions of the entire GATA2 gene, including several of the surrounding genes, have been reported in the literature in individuals affected with myelodysplastic syndrome and/or acute myeloid leukemia (PMID: 23223431, 22147895). For these reasons, this variant has been classified as Pathogenic.

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