ClinVar Miner

Submissions for variant NC_000008.10:g.(?_11565822)_(11566457_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003107582 SCV003794570 pathogenic Atrioventricular septal defect 4 2022-01-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the GATA4 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA4 are known to be pathogenic (PMID: 12845333, 15235040). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GATA4-related conditions.

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