ClinVar Miner

Submissions for variant NC_000018.10:g.22169190A>T

gnomAD frequency: 0.00001  dbSNP: rs916466917
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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 RCV001348661 SCV001542970 uncertain significance Atrioventricular septal defect 5 2025-01-06 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the GATA6 gene. It does not change the encoded amino acid sequence of the GATA6 protein. This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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