ClinVar Miner

Submissions for variant NC_000023.10:g.(?_48542243)_(48652571_?)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 RCV003107581 SCV003794569 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GATA1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the GATA1 gene has been identified. Loss-of-function variants in GATA1 are known to be pathogenic (PMID: 16783379, 22706301, 23704091, 24453067). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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