ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1206903)_(1207212_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708096 SCV000837206 uncertain significance Peutz-Jeghers syndrome 2019-05-07 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 1 of the STK11 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 1 of the STK11 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with STK11-related disease. 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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