ClinVar Miner

Submissions for variant NC_000002.11:g.(?_200173463)_(200320780_?)dup

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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 RCV000541470 SCV000646930 uncertain significance Chromosome 2q32-q33 deletion syndrome 2017-06-16 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on SATB2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with a SATB2-related disease. This variant is a gross duplication of the genomic region encompassing exons 3-11 of the SATB2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 11 of the SATB2 gene. The exact genomic location of this variant is unknown.

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